id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
duchenne:11305801 | Effective growth hormone therapy in a growth hormone deficient patient with Duchenne muscular dystropy without evidence of acceleration of the dystrophic process. | [
"We describe a patient with Duchenne muscular dystropy and growth hormone deficiency in whom treatment with human growth hormone for 2 years resulted in improved growth velocity without any detrimental effect on muscle strength."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystropy\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Duchenne muscular dystropy"
] | null | [
"improved growth velocity"
] | [
"treatment with human growth hormone for 2 years"
] | null | [
"growth hormone deficiency"
] | [
"without any detrimental effect on muscle strength"
] |
duchenne:11301229 | Limb girdle muscular dystrophy type 2A presenting with cardiac arrest. | [
"The occurrence of respiratory failure in progressive neuromuscular disorders is well recognized. This failure is observed most commonly in Duchenne dystrophy but sometimes occurs in Becker's, limb-girdle, and facioscapulohumeral dystrophies. Patients usually present acutely or subacutely with cyanosis and cor pulm... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The occurrence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n respiratory failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"progressive neuromuscular disorders",
"Duchenne dystrophy",
"Becker's",
"limb-girdle",
"facioscapulohumeral dystrophies",
"limb-girdle muscular dystrophy type 2A",
"limb-girdle muscular dystrophy"
] | null | [
"respiratory failure",
"cyanosis",
"cor pulmonale",
"severe decompensation",
"acute intercurrent infection",
"cardiopulmonary arrest",
"cardiopulmonary arrest",
"upper respiratory tract infection",
"symptoms and quality of life"
] | [
"nocturnal application of noninvasive intermittent positive pressure ventilation with a bilevel positive airway pressure (Bi-PAP) device",
"nocturnal nasal administration of continuous airway pressure using the Bi-PAP device",
"maintain adequate ventilation"
] | null | null | [
"without resorting to more-invasive and more-restrictive forms of support"
] |
duchenne:11213553 | Total intravenous anaesthesia without muscle relaxants in a child with diagnosed Duchenne muscular dystrophy. | [
"The case of a 3 year old child, affected by Duchenne muscular dystrophy, who underwent adenoidectomy and bilateral myringotomy, is reported. Total intravenous anaesthesia (propofol 1% infusion (160 micrograms kg-1min-1) and remifentanil (0.55 microgram kg-1min-1) without any muscle relaxants was used. The postoper... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 3 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Duchenne muscular dystrophy"
] | null | null | [
"adenoidectomy",
"bilateral myringotomy",
"Total intravenous anaesthesia (propofol 1% infusion (160 micrograms kg-1min-1) and remifentanil (0.55 microgram kg-1min-1)"
] | null | null | [
"without any muscle relaxants"
] |
duchenne:11208376 | Early symptoms of Duchenne muscular dystrophy--description of cases of an 18-month-old and an 8-year-old patient. | [
"The paper presents the description of Duchenne progressive muscular dystrophy in an 18-month-old and an 8-year-old boy. The diagnosis was established on the basis of clinical symptoms, such as impaired motor development, hypertrophy of leg muscles, difficulty in walking; elevated serum phosphocreatine kinase activ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The paper presents the description of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne progressive muscular dystrophy\n <span style=\"font-size: 0... | [
"Duchenne progressive muscular dystrophy",
"progressive muscular dystrophy"
] | null | [
"impaired motor development",
"hypertrophy of leg muscles",
"difficulty in walking",
"pathologic electromyographic recordings"
] | [
"rehabilitation earlier",
"appropriate type of anesthesia",
"surgical treatment",
"genetic counseling"
] | null | [
"elevated serum phosphocreatine kinase activity",
"increased activity of such enzymes as: alanine and aspartate aminotransferases, lactate dehydrogenase and aldolase--"
] | [
"normal gammaglutamyltranspeptidase activity"
] |
duchenne:10751817 | Detection of deletion in the dystrophin gene of a patient with quadriceps myopathy. | [
"A 43 year old male presented with slowly progressive weakness of limbs and hypertrophy of triceps, brachioradialis and calf muscles for four years. There was thinning of quadriceps muscles in both thighs. Histological study was compatible with Becker muscular dystrophy (BMD). Genomic DNA analysis showed a deletion... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 43 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy (BMD)",
"quadriceps myopathy",
"BMD"
] | [
"deletion of the Hind III fragments, spanning exons 45-47. A junction fragment of 11.0 kb was observed along with a deletion of a 3.4 kb PstI fragment containing exon 51 in the patient, and in one of his two sisters"
] | [
"slowly progressive weakness of limbs",
"hypertrophy of triceps, brachioradialis and calf muscles",
"for four years",
"thinning of quadriceps muscles in both thighs"
] | null | null | null | null |
duchenne:11129135 | Becker muscular dystrophy associated with focal myositis on bone scintigraphy. | [
"Bone scintigraphy was performed on a 6-year-old boy with possible sacroiliitis.",
"Extraosseous uptake in the region of the paraspinal, psoas and calf muscles was noted and suggested myositis. Subsequently, his creatine kinase level was found to be elevated. Results of a neuromuscular examination, muscle biopsy ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bone scintigraphy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"sacroiliitis",
"myositis",
"Becker muscular dystrophy",
"Becker muscular dystrophy"
] | null | [
"Extraosseous uptake in the region of the paraspinal, psoas and calf muscles",
"several distinct areas of myositis",
"regeneration"
] | null | null | [
"creatine kinase level",
"to be elevated"
] | null |
duchenne:11103261 | [Acute gastric dilatation in Duchenne's muscular dystrophy]. | [
"A 15 year old boy with Duchenne muscular dystrophy had severe pain in the lower abdomen and complained of nausea and bilious vomiting. A physical examination and an abdominal X-ray indicated an acute gastric dilation. With a treatment policy of administering nothing orally, a downward-hanging stomach tube and the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 15 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"severe pain in the lower abdomen",
"nausea",
"bilious vomiting",
"acute gastric dilation",
"atrophy of the smooth muscle layers",
"progressive atrophy of striated skeletal and cardiac muscle",
"clinical dysfunctioning of the gastro-intestinal tract"
] | [
"administering nothing orally, a downward-hanging stomach tube",
"intravenous administration of fluid"
] | null | null | null |
duchenne:11103252 | [The heartache of muscular dystrophy]. | [
"Duchenne and Becker muscular dystrophy are caused by a mutation in the dystrophin gene, located on the short arm of the X chromosome. Three so called dystrophinopathy patients, a women aged 54 and two men aged 23 and 21 years, suffered from a severe dilated cardiomyopathy. Such a cardiomyopathy can develop in both... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne",
"Becker muscular dystrophy",
"dystrophinopathy",
"severe dilated cardiomyopathy",
"cardiomyopathy",
"Dystrophinopathy"
] | [
"mutation in the dystrophin gene, located on the short arm of the X chromosome",
"mutation in the dystrophin gene"
] | [
"muscle weakness",
"cardiological abnormalities",
"cardiomyopathy",
"dilated cardiomyopathy",
"muscle weakness"
] | [
"timely therapy"
] | null | [
"high serum creatine kinase activity"
] | [
"cardiological investigations yield normal results"
] |
duchenne:11053684 | Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. | [
"Myogenic factors (MYF) belong to the basic helix-loop-helix (bHLH) transcription factor family and regulate myogenesis and muscle regeneration. The physiological importance of both functions was demonstrated in homozygous Myf knockout mice and mdx mice. Myf5 and Myod are predominantly expressed in proliferating my... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Myogenic factors (MYF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"myopathy",
"mild to moderate course of Becker muscular dystrophy"
] | [
"Myogenic factors (MYF)",
"basic helix-loop-helix (bHLH) transcription factor family",
"homozygous Myf",
"Myf5 and Myod",
"Myf4",
"Myf6",
"heterozygous 387G-->T nucleotide transversion in the MYF6 gene (MIM*159991)",
"MYF6 haploinsufficiency",
"MYF6"
] | [
"myogenesis",
"muscle regeneration"
] | null | null | [
"Protein-protein interaction of mutant MYF6 was reduced",
"DNA-binding potential and transactivation capacity were abolished"
] | null |
duchenne:11050839 | [Post exercise myalgias as presentation form of dystrophinopathy]. | [
"Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker's dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe mus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cramps\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"dystrophinopathies",
"Duchenne",
"Becker's dystrophy",
"dystrophinopathies",
"myalgias"
] | [
"mutations in the dystrophin gene",
"deletions of exons 45 to 51"
] | [
"Cramps",
"myalgias",
"severe muscle pain",
"exercise",
"mild calf hypertrophy"
] | null | null | [
"dystrophin of reduced quantity and molecular weight"
] | [
"normal muscle power"
] |
duchenne:11039581 | Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. | [
"Within one X-linked muscular dystrophy family, different phenotypes for three males occurred: (1) a severely affected Becker patient with cardiomyopathy, (2) a mildly affected Becker patient, and (3) an apparently healthy male with elevated serum CK levels. In the muscle biopsy specimen of patient2 one out of four... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Within one \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X-linked\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"muscular dystrophy",
"Becker",
"cardiomyopathy",
"Becker",
"Duchenne muscular dystrophy"
] | [
"X-linked",
"nonsense mutation in exon 29 (4148C > T) of the dystrophin gene",
"skipping of exon 29, restoring an open reading frame",
"exon 29",
"level of skipping of exon 29"
] | [
"normal size fragment in muscle"
] | [
"inducing exon skipping"
] | null | [
"elevated serum CK levels",
"antibodies (NCL-DYS1)",
"absence of dystrophin"
] | null |
duchenne:11038467 | Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing. | [
"We report on the incidental prenatal detection of an interstitial X-chromosomal deletion in a male fetus and his mother by fetal sexing with a primer pair recognizing an X-Y homologous locus (DXYS19), formerly unassigned on the X chromosome. The proband asked for prenatal diagnosis because of her elevated age and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on the incidental prenatal detection of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n interstitial X-chromosomal deletion\n <span style=\"f... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"Mental retardation"
] | [
"interstitial X-chromosomal deletion",
"X-Y homologous locus (DXYS19), formerly unassigned on the X chromosome",
"Y-chromosomal product",
"absence of the X-chromosomal fragment in the fetus and on one X chromosome of the mother",
"DXYS19X",
"Xp22.3",
"interstitial deletions in Xp22.3",
"STS gene"
] | [
"mentally retarded",
"overlapping deletions"
] | null | null | null | [
"did not show the constitutive X-chromosomal fragment",
"could not be excluded"
] |
duchenne:11032622 | Unusual muscle pathology in McLeod syndrome. | [
"Muscle pathology in McLeod syndrome is usually mild; patchy necrotic or regenerating fibres, occasional internal nuclei, and the absence of an inflammatory cell infiltrate are the usual findings. We report on a 29 year old man presenting with chronic fatiguability and excessive sweating in whom an open quadriceps ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Muscle pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"McLeod syndrome",
"McLeod syndrome",
"idiopathic polymyositis",
"McLeod syndrome",
"chronic granulomatous disease"
] | [
"variable involvement of the XK gene on chromosome Xp21, or of the adjacent loci of Duchenne muscular dystrophy"
] | [
"Muscle pathology",
"patchy necrotic or regenerating fibres",
"occasional internal nuclei",
"chronic fatiguability",
"excessive sweating"
] | null | null | [
"red blood cell acanthocytosis",
"raised serum creatine kinase",
"weak expression of Kell blood group antigens"
] | [
"absence of an inflammatory cell infiltrate",
"Immunoperoxidase stains for CD20, CD30, CD79a, and CD56 were negative",
"Immunocytochemical studies for the common muscular dystrophies were normal"
] |
duchenne:11002735 | [Tracheopulmonary-subcutaneous fistula associated with anaerobic subcutaneous abscess on mechanical ventilator support in a patient with Duchenne muscular dystrophy]. | [
"A 29-year-old Japanese man with Duchenne muscular dystrophy was placed on a mechanical ventilator support at 23 years of age and admitted to our hospital at 25 years of age. He had severe neck contracture deviated to the left side which resulted in dysphagia and microaspiration. At 29 years of age, he developed le... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 29-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy"
] | null | [
"severe neck contracture deviated to the left side",
"dysphagia",
"microaspiration",
"left lobar pneumonia",
"slight fever",
"back pain",
"foul odor from the patient's sputum",
"pneumonia disseminated to the right lung",
"tracheopulmonary-subcutaneous fistula",
"massive subcutaneous abscess with f... | [
"placed on a mechanical ventilator support",
"Drainage from the subcutaneous abscess was done through a chest tube"
] | [
"Japanese"
] | [
"peptostreptococcus sp."
] | [
"Although the patient received broad spectrum antibiotics",
"respiratory hypercapnia was not corrected"
] |
duchenne:11002725 | [Electrolyte abnormalities and metabolic acidosis in two Duchenne muscular dystrophy patients with advanced congestive heart failure]. | [
"We experienced two Duchenne muscular dystrophy patients with advanced congestive heart failure, who showed abrupt severe hyponatremia, hyperkalemia and metabolic acidosis. Two patients received respiratory management, parenteral nutrition, and drugs including angiotensin converting enzyme inhibitors (ACEI). The pa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We experienced two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Duchenne muscular dystrophy",
"advanced congestive heart failure",
"congestive heart failure",
"CHF"
] | null | [
"abdominal pain",
"hematuria",
"diarrhea",
"disorientation",
"abdominal discomforts",
"fell into shock",
"died",
"life-threatening electrolyte abnormalities",
"metabolic acidosis",
"renal dysfunction",
"congestive heart failure",
"acute changes",
"fell into shock",
"acute changes",
"acut... | [
"respiratory management",
"parenteral nutrition",
"drugs including angiotensin converting enzyme inhibitors (ACEI)",
"Combination therapy with hydrocortisone, glucose-insulin therapy (GIT) and NaHCO3",
"GIT therapy",
"ACEI",
"combination therapy with nonsteroidal anti-inflammatory drugs (NSAID)",
"pot... | null | [
"abrupt severe hyponatremia",
"hyperkalemia",
"metabolic acidosis",
"Na 120 mEq/L, K 7.3 mEq/L",
"BUN > 140 mg/dl (scale over)",
"ACTH 20.2 pg/ml, cortisol 25 micrograms/dl, renin 40.7 ng/ml/hr",
"aldosterone 203 ng/dl",
"metabolic acidosis (pH 7.232)",
"Na 129 mEq/L, K 5.5 mEq/L",
"BUN 60 mg/dl, ... | [
"Although hydrocortisone was introduced",
"could not recover",
"excessive restriction of water and sodium intake"
] |
duchenne:10994887 | Preserving function in Duchenne dystrophy with long-term pulse prednisone therapy. | [
"We report a case of a patient with Duchenne muscular dystrophy who was treated with intermittent pulse prednisone for severe asthma from age 3 to 17 yr and had remarkable preservation of skeletal muscle function. He had a maternal uncle with Duchenne muscular dystrophy who had the identical familial deletion mutat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weig... | [
"Duchenne muscular dystrophy",
"severe asthma",
"Duchenne muscular dystrophy"
] | null | [
"remarkable preservation of skeletal muscle function",
"died",
"respiratory failure",
"partially ambulatory"
] | [
"treated with intermittent pulse prednisone",
"pulse prednisone used on a much longer term basis"
] | null | null | null |
duchenne:10916377 | [Improvement of obstructive sleep apnea by uvulopalatopharyngoplasty and tonsillectomy in a case of Duchenne muscular dystrophy]. | [
"A 10-year-old boy with Duchenne muscular dystrophy (DMD) underwent uvulopalatopharyngoplasty and tonsillectomy for obstructive sleep apnea (OSA). He has snored loudly during nocturnal sleep since infancy, and OSA developed one and a half years after he was wheel chair-bound at 8 years. Magnetic resonance imaging (... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 10-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)",
"obstructive sleep apnea (OSA)",
"OSA",
"DMD",
"DMD",
"OSA",
"DMD"
] | null | [
"snored loudly during nocturnal sleep",
"moderate tonsillar hypertrophy",
"long uvula which narrowed the upper airway",
"forced expiratory volume (FEV) was improved (FEV 1.0%; from 75 to 86%)",
"tonsillar hypertrophy",
"redundant uvula",
"noctrurnal OSA"
] | [
"uvulopalatopharyngoplasty",
"tonsillectomy",
"wheel chair-bound",
"surgery",
"surgery",
"the surgery"
] | null | [
"preoperative apnea index of 32.8/hour decreased to 0.8/hour postoperatively",
"REM-related falls in HbSaO2 improved remarkably"
] | [
"vital capacity (VC) was not changed (% VC; from 77 to 78%)",
"normal tonsil and uvula"
] |
duchenne:10908953 | [Mechanical ventilation in neuromuscular diseases: do not start too early, but certainly not too late]. | [
"Three patients had chronic respiratory disorders: a 42-year-old man with glycogenosis type II was tired, had headaches, poor pulmonary function values and, according to the arterial blood gas values, hypercapnia; a man aged 24 with Duchenne's muscular dystrophy had variable moderate dyspnoea with hypoxia and hyper... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three patients had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic respiratory disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"chronic respiratory disorders",
"glycogenosis type II",
"Duchenne's muscular dystrophy",
"mitochondrial myopathy",
"ventilatory disorder",
"neuromuscular disease"
] | null | [
"tired",
"headaches",
"poor pulmonary function values",
"variable moderate dyspnoea",
"hypoxia",
"dyspnoea",
"headache",
"symptoms and abnormalities",
"died",
"Symptoms suggestive of nocturnal hypoventilation",
"chronic respiratory insufficiency",
"nocturnal hypoventilation",
"hypoventilatio... | [
"nocturnal ventilatory support through a nasal mask system",
"assisted respiration",
"early referral to a centre for home mechanical ventilation"
] | null | [
"hypercapnia",
"hypercapnia"
] | [
"good blood gas values",
"preferred to refrain from ventilatory support",
"without ventilatory support",
"without respiratory insufficiency",
"free of symptoms",
"normal daytime values do not exclude a nocturnal respiratory insufficiency"
] |
duchenne:10866881 | Rapacuronium administration to two children with Duchenne's muscular dystrophy. | [
"Children with Duchenne's muscular dystrophy should not be exposed to succinylcholine because of the risk of hyperkalemic cardiac arrest and rhabdomyolysis. This report describes the response to rapacuronium bromide in two patients with Duchenne's muscular dystrophy. Both patients had a recovery index 2 times longe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne's muscular dystrophy",
"rhabdomyolysis",
"Duchenne's muscular dystrophy"
] | null | [
"hyperkalemic cardiac arrest"
] | [
"succinylcholine",
"rapacuronium bromide"
] | null | [
"recovery index 2 times longer than that"
] | [
"normal neuromuscular function"
] |
duchenne:10835941 | [A patient presented with atypical paroxysmal kinesigenic choreoathetosis and Becker muscular dystrophy]. | [
"A 22-year-old man had choreatic movements in upper limbs, neck and trunk for over twelve years which were associated with dystonia in lower limbs upon initiating voluntary movements. The choreatic movement lasted for a few seconds and the dystonia lasted for a few minutes. He also had high serum CK levels and hype... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"paroxysmal kinesigenic choreoathetosis (PKC)",
"dystonia",
"Becker muscular dystrophy",
"dystonia",
"PKC",
"PKC"
] | null | [
"choreatic movements in upper limbs, neck and trunk for over twelve years",
"dystonia in lower limbs",
"initiating voluntary movements",
"choreatic movement lasted for a few seconds",
"dystonia lasted for a few minutes",
"hypertrophic calf muscles",
"choreatic movements",
"improved the dystonia as wel... | [
"Administration of anticonvulsant"
] | null | [
"high serum CK levels"
] | [
"muscle strength and deep tendon reflexes were normal"
] |
duchenne:10797409 | Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy. | [
"A man was identified with two X-chromosomal neuromuscular disorders, X-linked Charcot-Marie-Tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"X-linked Charcot-Marie-Tooth disease (CMTX)",
"Becker muscular dystrophy (BMD)",
"muscular dystrophy"
] | [
"X-chromosomal neuromuscular disorders",
"mutation in the connexin32 gene on Xq13. 1",
"sporadic",
"de novo deletion in the dystrophin gene located in band Xp21.2",
"genetic alterations of the same X-chromosome"
] | [
"severe wasting of proximal as well as distal muscles",
"rapid progression of both conditions"
] | null | null | null | null |
duchenne:10791029 | [Carrier's detection in families affected by Duchenne/Becker muscular dystrophy in which DNA from affected individuals is not available]. | [
"Carrier/noncarrier status of the mutated dystrophin gene was established in 9 females from four families with Duchenne/Becker muscular dystrophy, in which samples of DNA from the affected members were not available. Analysis of extra- and intragenic polymorphic segments of the dystrophin gene enabled identificatio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Carrier/noncarrier status of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n the mutated dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Duchenne/Becker muscular dystrophy"
] | [
"the mutated dystrophin gene",
"recombination in the analysed segment of the gene"
] | null | null | null | null | [
"samples of DNA from the affected members were not available",
"exclusion of carriership",
"results were not informative"
] |
duchenne:10791028 | [Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]. | [
"A search for female mutation carriers was performed in 40 families with an isolated case of Duchenne/Becker muscular dystrophy due to a deletion in the dystrophin gene. Intragenic restriction sites and microsatellite sequences (CA repeats) were analysed in females possible carriers of the deletion. Application of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A search for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"isolated case of Duchenne/Becker muscular dystrophy"
] | [
"deletion in the dystrophin gene"
] | null | null | null | null | [
"were not informative"
] |
duchenne:10788987 | [Anesthetic complications. The incidence of severe anesthetic complications in patients and families with progressive muscular dystrophy of the Duchenne and Becker types]. | [
"During the last 30 years a great number of case reports presented severe anaesthetic complications with sudden cardiac arrest in patients with muscular dystrophies, mostly unsuspected at the time of the event. As succinylcholine was involved in the majority of the intractable incidents with lethal outcome the Food... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">During the last 30 years a great number of case reports presented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe anaesthetic complications\n <span... | [
"muscular dystrophies",
"Duchenne (DMD) and Becker type (BMD) muscular dystrophy",
"DMD",
"BMD",
"DMD",
"BMD",
"DMD",
"BMD",
"muscular dystrophy",
"undiagnosed disease",
"DMD/BMD",
"undiagnosed DMD",
"BMD",
"DMD",
"BMD"
] | null | [
"severe anaesthetic complications",
"sudden cardiac arrest",
"intractable incidents",
"lethal outcome",
"severe anaesthetic complications",
"malignant hyperthermia (MH)",
"Sudden cardiac arrest",
"fever",
"symptoms of rhabdomyolysis (CK-elevation",
"masseter spasm",
"cardiac arrests",
"severe ... | [
"succinylcholine",
"administration of succinylcholine",
"succinylcholine",
"anaesthesia",
"outpatients",
"Muscle Centre",
"anaesthetics",
"anaesthetics and eventual complications in the parents, siblings and relatives",
"444 anaesthetics",
"resuscitated",
"anaesthetics",
"inhalational agents a... | null | [
"dark coloured urine",
"hyperkalemia)"
] | null |
duchenne:10763500 | Oral creatine supplementation in Duchenne muscular dystrophy: a clinical and 31P magnetic resonance spectroscopy study. | [
"The decrease in intracellular creatine concentration in Duchenne muscular dystrophy may contribute to the deterioration of intracellular energy homeostasis and may thus be one of the factors aggravating muscle weakness and degeneration. Oral creatine supplementation should have potential in alleviating the clinica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n decrease in intracellular creatine concentration\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"muscle disease"
] | null | [
"muscle weakness and degeneration",
"improved muscle performance"
] | [
"Oral creatine supplementation",
"creatine was orally administered over a period of 155 days",
"creatine supplementation",
"creatine supplementation",
"symptomatic therapy"
] | null | [
"decrease in intracellular creatine concentration",
"deterioration of intracellular energy homeostasis",
"plasma creatine kinase and lactate dehydrogenase activities"
] | null |
duchenne:10761838 | Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy. | [
"We report on a boy with a BMD phenotype presenting with a deletion of exons 45-49 in the DMD gene. Immunofluorescence and Western blot analysis of a skeletal muscle sample revealed, as expected, truncated dystrophin with loss in the central rod domain, but with an unusual severe deficiency in the sarcoglycan compl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"BMD",
"severe DMD"
] | [
"deletion of exons 45-49 in the DMD gene"
] | null | null | null | [
"unusual severe deficiency in the sarcoglycan complex"
] | null |
duchenne:10726842 | An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. | [
"We present four subjects from one family and one subject (with an affected sibling who had died) from a second, unrelated family, with early onset, Duchenne-like, muscular dystrophy who presented with proximal girdle weakness, calf and generalized muscle hypertrophy, selective wasting of the sternomastoid muscles,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present four subjects from one family and one subject \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n (with an affected sibling who had died) from a secon... | [
"early onset, Duchenne-like, muscular dystrophy",
"autosomal recessive muscular dystrophy"
] | null | [
"proximal girdle weakness",
"calf and generalized muscle hypertrophy",
"selective wasting of the sternomastoid muscles",
"rigidity of the spine",
"contractures of the tendo Achilles",
"early respiratory failure",
"severe diaphragmatic involvement",
"died",
"ambulant"
] | [
"dependent on night time ventilation"
] | null | [
"Serum creatine kinase was grossly elevated",
"reduction of the laminin alpha2 chain of merosin",
"secondary merosin deficiency",
"protein deficiency"
] | [
"Intellect was normal",
"very little deterioration over time in the skeletal muscle function",
"normal pattern for dystrophin and the dystrophin-associated glycoproteins",
"Magnetic resonance imaging of the brain was normal",
"did not link to the LAMA2 locus for laminin alpha2 on chromosome 6q"
] |
duchenne:10726828 | Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. | [
"This study reports three children from three unrelated families, aged from 9 to 12 years, who were investigated because of the incidental finding of elevated serum creatine kinase (CK) levels and were found to have a dystrophinopathy. The molecular defect consisted of a deletion of variable extent within the centr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study reports three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"dystrophinopathy"
] | [
"molecular defect",
"deletion of variable extent within the central rod domain of the dystrophin gene, involving either exons 32-44 or 48-51 or 48-53",
"deletions of the central rod domain of dystrophin"
] | [
"very mild muscle involvement (thin muscles and/or mild scoliosis)"
] | null | null | [
"elevated serum creatine kinase (CK) levels",
"elevation of serum CK"
] | [
"completely asymptomatic",
"normal or borderline CK levels"
] |
duchenne:10722962 | Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation. | [
"Severe mental retardation is a rare complication of Duchenne muscular dystrophy (DMD). Here we report that two DMD cases showing severe mental retardation exhibit the same exon skipping event induced by different intron mutations. In the two Japanese DMD patients studied, the complete sequence of exon 66 of the dy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Severe mental retardation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | [
"exon skipping event",
"different intron mutations",
"the complete sequence of exon 66 of the dystrophin gene was found to be absent from the dystrophin mRNA, creating a premature stop codon in exon 67",
"Novel point mutations at the consensus sequence of the splice donor site of intron 66 (T9857(+2) to C in"... | [
"Severe mental retardation",
"severe mental retardation",
"severe mental retardation",
"pachygyria",
"severe form of mental retardation"
] | null | [
"Japanese"
] | null | null |
duchenne:10720878 | Maternal contamination at fetal muscle biopsy. | [
"Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. We report a case of fetal muscle biopsy in which the needle gun was successfully fired within the fetal gluteal muscle but the sample was contaminated by maternal tissue. Th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)"
] | null | [
"maternal contamination"
] | [
"transient opening of the biopsy core",
"needle penetrated the maternal rectus sheath, muscle, and myometrium"
] | null | [
"absence of dystrophin"
] | [
"normal dystrophin expression"
] |
duchenne:22570900 | Hypertrophic muscular dystrophy in a young dog. | [
"Hypertrophic muscular dystrophy was diagnosed in a 10-month-old male Rat Terrier with hypersalivation, dysphagia, gait abnormalities, and generalized weakness. Serum creatine kinase activity was high, and electromyography revealed myotonic discharges. Histologic examination of a muscle biopsy specimen revealed mus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hypertrophic muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Hypertrophic muscular dystrophy",
"dystrophin deficiency-related muscular dystrophy",
"X-linked muscular dystrophy",
"hypertrophic muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"hypersalivation",
"dysphagia",
"gait abnormalities",
"generalized weakness",
"myotonic discharges",
"temporary improvement in clinical signs"
] | [
"Treatment with mexiletene hydrochloride and procainamide hydrochloride",
"euthanatized"
] | [
"Rat Terrier"
] | [
"Serum creatine kinase activity was high",
"Staining for dystrophin, a sarcolemmal protein, was decreased"
] | [
"clinically normal dogs",
"refractory to treatment"
] |
duchenne:10689635 | An atypical kindred with X-linked adrenal hypoplasia congenita, normal puberty, and normal Dax-1 promoter and coding sequence. | [
"We report a Chinese kindred with an atypical sex-linked form of isolated adrenal hypoplasia without hypogonadotropic hypogonadism. Evidence of sex linkage was supported by DNA analysis using three polymorphic markers from the X-chromosome: a restriction fragment length polymorphism 200 kb centromeric of the DAX-1 ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chinese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | null | [
"sex linkage",
"polymorphic markers from the X-chromosome",
"restriction fragment length polymorphism 200 kb centromeric of the DAX-1 gene, a tetranucleotide repeat marker in the DAX-1 promoter (DAX-P)",
"microsatellite in the Duchenne muscular dystrophy locus (3'-19)",
"possible linkage to the DAX-1 gene",... | [
"atypical sex-linked form of isolated adrenal hypoplasia",
"sex-linked hypoadrenalism"
] | null | [
"Chinese"
] | null | [
"without hypogonadotropic hypogonadism",
"without hypogonadotropic hypogonadism",
"mutations in the DAX-1 gene",
"no sequence anomalies in the coding region, splice sites or 5' non-coding region"
] |
duchenne:10674846 | A female carrier of Duchenne muscular dystrophy complicated with cardiomyopathy. | [
"A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myoca... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 45-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)",
"cardiomyopathy",
"DMD"
] | null | [
"marked cardiomegaly",
"marked enlargement and severe hypokinesis of the left ventricle",
"perfusion defects of the myocardium",
"Cardiomyopathy",
"heart failure"
] | null | null | null | [
"no symptoms of muscle weakness or heart failure"
] |
duchenne:10660328 | Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online. | [
"We report a novel beta-sarcoglycan gene mutation identified in a 21-year-old Portuguese male with a progressive myopathy of intermediate severity, who had been misdiagnosed as Becker Muscular Dystrophy (BMD) based on clinical observations and muscle immunocytochemical anaylsis with dystrophin antibodies only. Sinc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel beta-sarcoglycan gene mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line... | null | [
"novel beta-sarcoglycan gene mutation",
"mutations in the sarcoglycan genes",
"band of increased mobility in exon 4 of the beta-sarcoglycan gene",
"homozygous A-->G transversion at nucleotide 551, resulting in a tyrosine to cysteine substitution at position 184 (Y184C)",
"beta-sarcoglycan mutations",
"in ... | [
"progressive myopathy of intermediate severity"
] | null | [
"Portuguese"
] | [
"inter-molecular disulphide bond formation"
] | [
"misdiagnosed as Becker Muscular Dystrophy (BMD)",
"no detectable deletions or duplications were found in the dystrophin gene"
] |
duchenne:10658417 | [Epidural anesthesia and general anesthesia using the cuffed oropharyngeal airway for an obese patient with Duchenne's muscular dystrophy]. | [
"Duchenne's muscular dystrophy is a genetic disorder whose features include abnormal responses to muscular relaxants and possible respiratory dysfunction after general anesthesia. The purpose of this report is to describe one management strategy used successfully to anesthetize an obese man with this disorder for a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne's muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Duchenne's muscular dystrophy"
] | [
"genetic disorder"
] | [
"abnormal responses to muscular relaxants",
"respiratory dysfunction"
] | [
"general anesthesia",
"anesthetize",
"atypical mastectomy",
"anesthetic management during surgery",
"epidural anesthesia using 2% mepivacaine",
"general anesthesia using the cuffed oropharyngeal airway",
"Postoperatively 0.25% bupivacaine was infused for epidural analgesia",
"observed in the intensive... | null | null | null |
duchenne:10655933 | Response to vecuronium in a patient with facioscapulohumeral muscular dystrophy. | [
"Increased sensitivity to vecuronium has been noted in patients with Duchenne muscular dystrophy. We report the response to vecuronium in a patient with facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant disorder with an incidence of 10-20 cases per million. In this patient, sensitivity to an init... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Increased sensitivity to vecuronium\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne muscular dystrophy",
"facioscapulohumeral muscular dystrophy (FSHD)"
] | [
"autosomal dominant disorder"
] | [
"Increased sensitivity to vecuronium",
"25% recovery of T1/T0",
"Recovery index (spontaneous recovery of T1/T0 from 25% to 75%)"
] | [
"vecuronium",
"doses of vecuronium (0.02 mg kg-1) was less than expected",
"intubating dose of vecuronium"
] | null | null | [
"sensitivity to an initial dose of vecuronium (0.02 + 0.08 mg kg-1) was normal"
] |
duchenne:10619719 | Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement. | [
"In Becker's muscular dystrophy cardiac abnormalities usually occur after onset of neuromuscular symptoms. We describe a Becker muscular dystrophy patient in whom chronic heart failure, necessitating cardiac transplantation, was the initial manifestation. Neuromuscular symptoms occurred not earlier than 6 years aft... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker's muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Becker's muscular dystrophy",
"Becker muscular dystrophy",
"Becker's muscular dystrophy"
] | null | [
"cardiac abnormalities",
"neuromuscular symptoms",
"chronic heart failure",
"Neuromuscular symptoms",
"initial cardiac symptoms",
"severe heart failure",
"dilated cardiomyopathy",
"neuromuscular symptoms"
] | [
"cardiac transplantation",
"heart transplantation"
] | null | null | null |
duchenne:10599684 | IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. | [
"We report three boys with adrenal hypoplasia congenita (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, Metaphyseal dysplasia, AHC, and Genital anomalies. Each presented shortly after birth with growth retardation and severe adrenal insufficiency. Each of the thr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boys\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"adrenal hypoplasia congenita (AHC)",
"AHC",
"AHC",
"IMAGe association",
"IMAGe association",
"syndromic relationship"
] | [
"mutations in the DAX1 gene",
"Xp21 contiguous gene syndrome",
"deletion of the Duchenne muscular dystrophy, glycerol kinase, and DAX1 genes"
] | [
"Intrauterine growth retardation",
"Metaphyseal dysplasia",
"Genital anomalies",
"growth retardation",
"severe adrenal insufficiency",
"mild dysmorphic features",
"bilateral cryptorchidism",
"small penis",
"hypogonadotropic hypogonadism",
"metaphyseal dysplasia",
"epiphyseal dysplasia",
"prena... | null | null | [
"hypercalciuria",
"hypercalcemia",
"nephrocalcinosis"
] | [
"normal creatine kinase levels",
"no evidence of glycerol kinase deficiency",
"no mutation in the DAX1- or steroidogenic factor-1-coding sequences",
"deletion of DAX1 detected"
] |
duchenne:10598666 | Duchenne muscular dystrophy and concomitant metastatic alveolar rhabdomyosarcoma. | [
"The authors report the concomitant occurrence of Duchenne muscular dystrophy (DMD) and alveolar rhabdomyosarcoma (RMS). A 4-year-old boy presented with symptoms involving his neuromuscular system that affected primarily his left hip and leg. Duchenne muscular dystrophy was diagnosed. Seven months later, metastatic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n concomitant occurrence of Duchenne muscular dystrophy (DMD)\n <span style=\"font-si... | [
"concomitant occurrence of Duchenne muscular dystrophy (DMD)",
"alveolar rhabdomyosarcoma (RMS)",
"Duchenne muscular dystrophy",
"metastatic alveolar RMS in the ipsilateral pelvis",
"major disorder affecting striated muscle (DMD)",
"RMS)"
] | null | [
"symptoms involving his neuromuscular system that affected primarily his left hip and leg"
] | null | null | null | null |
duchenne:10529540 | Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years. | [
"To elucidate the clinical characteristics of aged patients with Becker muscular dystrophy (BMD), 4 patients with this disease who were over 50 years were examined. The ages at onset in all patients were later than 30 years. All were proven to have a deletion around exons 45-55 of the Duchenne muscular dystrophy (D... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To elucidate the clinical characteristics of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n aged\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD"
] | [
"deletion around exons 45-55 of the Duchenne muscular dystrophy (DMD) gene"
] | [
"Dilated cardiomyopathy"
] | [
"wheelchair bound"
] | null | [
"Serum creatine kinase levels were elevated",
"not markedly (mean 444.8 +/- 230.3 U/l; normal value < 180 U/l)"
] | [
"still able to walk",
"no obvious hypertrophy in their calves",
"free of muscular symptoms"
] |
duchenne:10525982 | Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families. | [
"Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, lead to recessive and dominant myotonia congenita. We report four novel mutations identified in this gene, after clinical, electromyographic, and genetic studies performed on 13 unrelated families. Two of the four mutations... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35\n <span style=\... | [
"recessive and dominant myotonia congenita",
"Becker"
] | [
"Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35",
"four mutations (2512insCTCA and A218T)",
"Q658X)",
"R669C)"
] | null | null | null | null | null |
duchenne:10521816 | Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a relentless progressive disorder, leading to severe disability during childhood and death in adolescence or early adulthood. In most families, prenatal diagnosis is readily achieved by molecular detection of DNA deletions using chorionic villi or amniocytes, or by linkage anal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"relentless progressive disorder"
] | null | [
"severe disability",
"death"
] | null | null | null | [
"molecular methods fail to"
] |
duchenne:10502990 | [Effective milrinone therapy to a Duchenne muscular dystrophy patient with advanced congestive heart failure]. | [
"We experienced a Duchenne muscular dystrophy (DMD) patient with severe congestive heart failure (CHF) successfully treated with milrinone. He had been diagnosed as having CHF since 24 years of age when he began to have mechanical ventilation with a nasal mask at home. Although angiotensin converting enzyme (ACE) i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We experienced a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne muscular dystrophy (DMD)",
"severe congestive heart failure (CHF)",
"CHF",
"CHF",
"CHF",
"CHF",
"DMD",
"advanced CHF",
"DMD",
"CHF",
"DMD",
"DMD",
"advanced CHF"
] | null | [
"cardiac function worsened",
"Respiratory infection",
"exacerbation of CHF",
"cardiothoracic ratio (CTR) was 62%",
"Both ventricles were dilated",
"ventricular wall motility was markedly reduced",
"Ejection fraction of the left ventricle (LVEF) was 5%",
"general condition improved",
"LVEF increased ... | [
"milrinone",
"mechanical ventilation with a nasal mask",
"angiotensin converting enzyme (ACE) inhibitor",
"Continuous intravenous infusion of milrinone",
"at the rate of 0.25-0.35 microgram/kg/min",
"chemotherapy and milrinone",
"could stay in his home for 7 weeks",
"milrinone infusion therapy",
"ca... | null | [
"PaO2 was 48 mmHg",
"Serum brain natriuretic peptide (BNP) was 760 pg/ml",
"BNP was 44 pg/ml",
"beta receptors are down-regulated"
] | [
"No serious side effects",
"Even after milrinone withdrawal",
"little torelance"
] |
duchenne:10487472 | A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis. | [
"According to the translational reading frame theory, Duchenne muscular dystrophy (DMD) patients harbor out-of-frame deletion mutations in the dystrophin gene. We identified a Japanese DMD case who appeared to have an in-frame deletion of exons 46-54 that was disclosed by Southern blot analysis using a dystrophin c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">According to the translational reading frame theory, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"fon... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"out-of-frame deletion mutations in the dystrophin gene",
"in-frame deletion of exons 46-54",
"presence of an out-of-frame deletion of exons 46-53",
"HindIII fragment containing exon 54 was present at aberrant size"
] | null | null | [
"Japanese"
] | null | [
"incorrect conclusion that exon 54 had been deleted"
] |
duchenne:10483791 | Multiple episodes of thrombosis in a patient with Becker muscular dystrophy with marked expression of utrophin on the muscle cell membrane. | [
"We previously reported a patient with Becker muscular dystrophy (BMD) who exhibited a benign clinical phenotype and marked expression of utrophin on the muscle cell membrane. The patient developed multiple episodes of thrombosis (middle cerebral and femoral arteries) in the course of the disease. We re-examined th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We previously reported a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; fo... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD",
"Duchenne muscular dystrophy (DMD)",
"dystrophin-deficient DMD",
"BMD"
] | [
"up-regulated utrophin"
] | [
"benign clinical phenotype",
"multiple episodes of thrombosis (middle cerebral and femoral arteries)",
"muscle wasting"
] | null | null | [
"expression of procoagulant or anticoagulant factors",
"lower expression of thrombomodulin on the muscle cell membrane",
"utrophin up-regulation",
"coagulation system"
] | null |
duchenne:10476367 | Botulinum toxin for amelioration of knee contracture in Duchenne muscular dystrophy. | [
"An 11-year-old non-ambulant boy with Duchenne muscular dystrophy developed tightness in his left knee flexors, which caused difficulties in standing exercises. Botulinum toxin A (BTX-A) was injected into the medial and lateral hamstring muscles and the range of motion increased by 20 degrees but after 5 months, wh... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 11-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"tightness in his left knee flexors",
"range of motion increased by 20 degrees",
"an increase of only 5 degrees in range compared with the initial finding was left",
"contractures"
] | [
"Botulinum toxin A (BTX-A) was injected into the medial and lateral hamstring muscles",
"BTX-A"
] | null | null | [
"non-ambulant",
"difficulties in standing exercises",
"the pharmacological effect of BTX-A had vanished"
] |
duchenne:10465497 | A case of McLeod syndrome with unusually severe myopathy. | [
"A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 51-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"McLeod syndrome",
"myopathology of muscular dystrophy",
"Duchenne type muscular dystrophy",
"McLeod syndrome"
] | null | [
"weakness and muscle atrophy in the legs",
"choreiform involuntary movements",
"severe muscle weakness and atrophy",
"areflexia in all the extremities",
"marked atrophy of the head of the caudate nuclei",
"the 'selectivity pattern' characteristically reported in muscular dystrophies",
"muscular symptoms... | null | null | [
"acanthocytosis",
"elevated serum creatine kinase level",
"weak expression of Kell blood group antigens",
"absence of the Kx antigen"
] | [
"revealed normal staining"
] |
duchenne:10423348 | Could utrophin rescue the myocardium of patients with dystrophin gene mutations? | [
"The spontaneous up-regulation of utrophin, observed in dystrophin-deficient skeletal muscle fibers, may decrease the susceptibility of such fibers to necrosis. It has been reported that the utrophin-rescued double-mutant mdx mouse always develops a lethal cardiomyopathy. We report two patients with severe dilated ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The spontaneous \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n up-regulation of utrophin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"severe dilated cardiomyopathy",
"Duchenne muscular dystrophy",
"moderate Becker muscular dystrophy"
] | [
"up-regulation of utrophin",
"utrophin-rescued double-mutant",
"dystrophin gene mutations"
] | [
"lethal cardiomyopathy",
"myocardium would still remain severely affected"
] | [
"DMD",
"utrophin rescue in skeletal muscle fibers"
] | null | [
"up-regulation of utrophin in dystrophin-deficient cardiomyocytes"
] | [
"was unable to prevent the development of life-threatening myocardial dysfunction"
] |
duchenne:10405445 | Prenatal evaluation of a de novo X;9 translocation. | [
"A case of X-autosome translocation was diagnosed prenatally [46,X, t(X;9)(p21.3 approximately 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of ph... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X-autosome translocation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | null | [
"X-autosome translocation",
"46,X, t(X;9)(p21.3 approximately 22.1;q22]",
"functional partial disomy X and monosomy 9."
] | [
"phenotypic abnormalities"
] | null | null | null | null |
duchenne:10364661 | In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy. | [
"Prenatal diagnosis for Duchenne muscular dystrophy can usually be performed using DNA analysis. This approach would be impossible when there is only one prior affected male and no identifiable gene deletion. Therefore, in utero fetal thigh muscle biopsy with direct examination of muscle by dystrophin analysis may ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Prenatal diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Duchenne muscular dystrophy"
] | null | null | null | null | null | [
"no identifiable gene deletion",
"Duchenne muscular dystrophy"
] |
duchenne:10320864 | Characterization of two nonsense mutations in the human dystrophin gene. | [
"Forty Duchenne muscular dystrophy patients from the province of Moravia in the Czech Republic, who were previously found negative for large deletions in the dystrophin gene, were tested for the presence of point mutations in selected exons. Besides several intron and exon polymorphisms, two cases of nonsense mutat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Forty \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy"
] | [
"point mutations in selected exons",
"intron and exon polymorphisms",
"nonsense mutations",
"in exon 70, thus causing the loss of the C-terminal domain of dystrophin",
"mutation, S3365X",
"R3381X",
"mutations, only 16 bp distant from each"
] | null | null | [
"Moravia",
"Czech Republic"
] | null | [
"negative for large deletions in the dystrophin gene"
] |
duchenne:10094556 | Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online. | [
"A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 suggesting a splicin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Duchenne muscular dystrophy"
] | [
"newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26",
"splicing abnormality",
"one nucleotide substitution of A-to-G at 2 Kb downstream from the 5' end of intron 25 which formed consensus dinucleotide 'GT' motif for 5' splice site resulting in aberrant splicing",
"mutation a... | null | null | null | null | [
"no detectable deletion or duplication in the dystrophin gene",
"routine multiplex PCR method"
] |
duchenne:10093066 | Cardiac transplantation in a Duchenne muscular dystrophy carrier. | [
"We report here for the first time the case of a symptomatic DMD carrier, who had a heart transplant for a severe dilated cardiomyopathy. Dystrophin immunohistochemistry, western blot and analysis of X-chromosome inactivation on leucocytes, and skeletal and cardiac muscle biopsies on the explanted heart were perfor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here for the first time the case of a symptomatic \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n DMD\n <span style=\"font-size: 0.8em; font-wei... | [
"DMD",
"severe dilated cardiomyopathy"
] | [
"heterozygote for exons 50-52 deletion in the dystrophin gene",
"non-skewed pattern of X-chromosome inactivation, as in leukocytes and skeletal muscle"
] | [
"explanted heart",
"adverse cardiac course"
] | [
"heart transplant"
] | null | null | [
"absence of regeneration among cardiomyocytes"
] |
duchenne:10078034 | [Excess caloric intake induced severe hypercapnia in a patient with Duchenne muscular dystrophy on noninvansive positive pressure ventilation]. | [
"In many patients with neuromuscular diseases, respiratory failure is mainly caused by alveolar hypoventilation in their terminal stages. Malnutrition is one of the common and serious problems in patients with chronic respiratory failure. Energy consumption for breathing is remarkably high in respiratory compromise... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In many patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neuromuscular diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"neuromuscular diseases",
"Malnutrition",
"chronic respiratory failure",
"Duchenne muscular dystrophy (DMD)"
] | null | [
"respiratory failure",
"alveolar hypoventilation",
"respiratory compromised",
"wasting of respiratory muscles",
"impairment of respiratory drive",
"alteration of respiratory pattern",
"pathological change of pulmonary parenchyma",
"overfeeding",
"respiratory failure",
"hypercapnia",
"air leakage... | [
"nutritional and ventilatory support",
"noninvasive positive pressure ventilation (NIPPV)",
"total parenteral nutrition (TPN)",
"NIPPV",
"nutritional program",
"nutritional support"
] | null | [
"Energy consumption for breathing",
"increase of total energy expenditure",
"Nutritional depletion",
"PaCO2 and caloric intake",
"Excess carbohydrate intake",
"precipitate fat synthesis",
"over-production of carbon dioxide (CO2)"
] | [
"limited capacity of oral intake",
"Failure to optimize NIPPV setting against increased CO2 load"
] |
duchenne:10073911 | Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene. | [
"Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the pla... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Prenatal diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Duchenne and Becker muscular dystrophy (DMD)",
"DMD"
] | [
"mosaicism of the X-chromosomes confined to the placenta"
] | null | null | null | null | null |
duchenne:9916528 | [Treatment of nocturnal periodic hypoxemia with safrazine hydrochloride in a patient with Duchenne muscular dystrophy under nasal intermittent positive pressure ventilation]. | [
"Nocturnal periodic hypoxemia occurring in a 25-year-old Duchenne muscular dystrophy patient under NIPPV control was successfully treated with monoamine oxydase inhibitor (MAOI), safrazine hydrochloride. Five mg of safrazine hydrochloride was administered before sleep, and the periodic hypoxemia disappeared within ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Nocturnal periodic hypoxemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"Nocturnal periodic hypoxemia",
"periodic hypoxemia",
"nocturnal hypoventilation",
"nocturnal periodic hypoxemia"
] | [
"NIPPV control",
"monoamine oxydase inhibitor (MAOI), safrazine hydrochloride",
"Five mg of safrazine hydrochloride",
"MAOI",
"tricyclic antidepressants",
"tricyclic antidepressants",
"Safrazine hydrochloride",
"tricyclic antidepressants",
"MAOI"
] | null | [
"suppression of REM sleep"
] | [
"without notable side effect"
] |
duchenne:9851444 | Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy. | [
"We report on the first case of X-linked recessive myotubular myopathy (MTM1) coinciding with Duchenne muscular dystrophy (DMD). The muscle biopsy specimens of the patient show only the characteristic findings of MTM1, without the findings of DMD. We theorize that this was caused by the muscle fiber immaturity and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on the first case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X-linked recessive myotubular myopathy (MTM1)\n <span style=\"font-size: 0.... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"X-linked recessive myotubular myopathy (MTM1)"
] | [
"muscle fiber immaturity",
"inactivity"
] | null | null | null | [
"without the findings of DMD"
] |
duchenne:9848313 | Triplet pregnancy with acardius acranius after preimplantation diagnosis. | [
"To report the first case of fetal malformation after preimplantation diagnosis for Duchenne muscular dystrophy (DMD).",
"Case report.",
"Perinatal center in a university hospital.",
"A conductor for DMD in her third pregnancy.",
"Preimplantation diagnosis was performed in an outside hospital. In our center... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the first case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fetal malformation\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Duchenne muscular dystrophy (DMD)",
"dichorionic triplet pregnancy with acardius acranius",
"severe hyaline membrane disease"
] | null | [
"fetal malformation",
"worsening cardiac insufficiency of the \"pump\"-twin",
"Pregnancy outcome",
"Premature preterm rupture of membranes",
"died",
"fetal malformations"
] | [
"preimplantation diagnosis",
"Perinatal center in a university hospital",
"conductor for DMD in her third pregnancy",
"The anastomosis between the \"pump\"-twin and the fetus with acardius",
"was embolized with histoacryl",
"The anastomosis between the \"pump\"-twin and the fetus with acardius",
"was oc... | null | null | [
"no major clinical problems"
] |
duchenne:9829280 | Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. | [
"We report two siblings, an 11-year-old boy and his 7-year-old sister, referred to us with a diagnosis of muscular dystrophy. The boy presented at 22 months with delay in walking. A very high serum creatine kinase (CK) level and a dystrophic muscle biopsy lead to a diagnosis of Duchenne muscular dystrophy prior to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two siblings, an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 11-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"muscular dystrophy",
"Duchenne muscular dystrophy",
"limb-girdle muscular dystrophy",
"merosin-deficient congenital muscular dystrophy",
"limb-girdle muscular dystrophy"
] | [
"inherited different X-chromosomes",
"was a G-->C point mutation at position -1 of intron 28 acceptor splicing site. This mutation induced activation of a cryptic splice at nucleotide 4429 of exon 29 and partial skipping of this exon, with conservation of the open reading frame",
"nonsense mutation due to a C_T... | [
"delay in walking",
"conditions remained static",
"slowing of the peripheral motor nerve conduction velocities",
"increased signal of the white matter",
"phenotypes considerably milder than classical merosin-deficient congenital muscular dystrophy"
] | null | null | [
"very high serum creatine kinase (CK) level",
"C-terminal laminin alpha 2 chain antibody",
"reduction in expression",
"very significant reduction",
"Partial laminin alpha 2 deficiency"
] | [
"normal expression of dystrophin and all sarcoglycans",
"do not completely disrupt the production of the protein"
] |
duchenne:9829279 | Dystrophinopathy in a boy with Chediak-Higashi syndrome. | [
"Chediak-Higashi syndrome (CHS) is a hereditary, biphasic immunodeficiency syndrome which usually leads to early death, during the first decade. The second phase is characterized by a lymphoproliferative syndrome with histiocytic infiltrations in various tissues. Recently the gene has been identified on chromosome ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chediak-Higashi syndrome (CHS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Chediak-Higashi syndrome (CHS)",
"biphasic immunodeficiency syndrome",
"lymphoproliferative syndrome",
"Duchenne muscular dystrophy (DMD)",
"CHS",
"DMD",
"DMD",
"muscular dystrophy",
"CHS"
] | [
"hereditary",
"chromosome 1q43",
"mutation within codon 3197 was found, resulting in a frame-shift",
"second genetic disease"
] | [
"early death",
"muscle weakness",
"hypotonia",
"affection of muscle"
] | null | null | null | null |
duchenne:9783849 | Preimplantation genetic diagnosis of spinal muscular atrophy. | [
"After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">After \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy",
"spinal muscular atrophy (SMA)",
"severe neuromuscular disease",
"SMA",
"SMA",
"SMA",
"SMA"
] | [
"homozygous deletions in exon 7 of the survival motor neuron (SMN) gene",
"highly homologous SMN copy gene",
"exon 7 deletions",
"copy gene sequence"
] | null | [
"preimplantation genetic diagnosis (PGD)",
"PGD of SMA",
"intracytoplasmic sperm injection",
"embryo transfer in the second PGD cycle",
"ongoing gemelli pregnancy",
"PGD"
] | null | null | [
"No allelic loss",
"negative PCR signal for the SMN exon 7 sequence"
] |
duchenne:9771686 | Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years. | [
"An 8-year-old girl developed weakness over 2 years and an elevated creatine kinase. The biopsy was most consistent with an active dystrophy with many inflammatory cells present. A trial of immunosuppression was started. In the first 2 months of treatment with prednisone, she had functionally and quantitatively sig... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 8-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"active dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"weakness over 2 years",
"functionally and quantitatively significant improvement in her proximal strength",
"maintained stable strength",
"benefit in strength"
] | [
"trial of immunosuppression",
"2 months of treatment with prednisone",
"Over 3 years of treatment",
"prednisone"
] | null | [
"elevated creatine kinase",
"primary alpha-sarcoglycan deficiency"
] | null |
duchenne:9721568 | [Myocardial involvement in carrier states for Duchenne muscular dystrophy. A rare cause of supraventricular arrhythmia]. | [
"Two women, both aged 54 years, were admitted because of supraventricular arrhythmias of recent onset. Patient 2 was also in heart failure. Male family members of both patients were known to have Duchenne's muscular dystrophy, of which one had died.",
"The electrocardiogram of patient 1 demonstrated atrial fibril... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Duchenne's muscular dystrophy",
"Cardiomyopathy",
"Duchenne's muscular dystrophy"
] | null | [
"supraventricular arrhythmias of recent onset",
"heart failure",
"atrial fibrillation",
"increased pulmonary marking in the chest radiogram",
"reduced ejection fraction",
"Myocardial involvement",
"cardiac failure",
"supraventricular arrhythmias"
] | [
"antihypertensive treatment",
"diuretics, ACE-inhibitor and beta-receptor blockers"
] | null | [
"raised serum creatine kinase concentration"
] | [
"normal findings on left heart catheterization"
] |
duchenne:9620834 | Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis. | [
"The use of preimplantation diagnosis for sex determination and detection of exon deletion means that unaffected babies can be born to parents suffering from Duchenne muscular dystrophy (DMD). However, those who do not have exon deletion should also be considered for further investigation. A new method, known as li... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The use of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n preimplantation diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"DMD"
] | [
"exon deletion",
"non-deletion DMD",
"preimplantation embryos",
"chromosome bearing the mutated gene"
] | null | [
"embryo was transferred"
] | null | null | [
"exon deletion"
] |
duchenne:9611069 | Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. | [
"We studied X inactivation patterns in manifesting carriers of familial and sporadic Duchenne muscular dystrophy (DMD) or unaffected carriers of DMD by analysis of the methylation of HpaII sites in the first exon of the human androgen-receptor gene (HUMARA) from peripheral blood samples. Three of the four manifesti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X inactivation patterns\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"familial and sporadic Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"X inactivation patterns",
"heterozygous for the CAG repeat of HUMARA",
"skewed X inactivation",
"extent of X inactivation for each X chromosome",
"pattern of skewed X inactivation",
"skewed X inactivation"
] | [
"almost symmetrical inactivation",
"slowly progressive myopathy"
] | null | null | null | [
"unaffected carriers of DMD"
] |
duchenne:9608559 | Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. | [
"Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. Affected patients usually present in early adolescence with scapulo-peroneal muscle weakness and wasting, and contractures of the tendo Achilles, elbows... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Emery-Dreifuss muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Emery-Dreifuss muscular dystrophy",
"neuromuscular disorder",
"Emery-Dreifuss muscular dystrophy",
"limb-girdle muscular dystrophy",
"Emery-Dreifuss muscular dystrophy",
"Emery-Dreifuss muscular dystrophy",
"early onset muscular dystrophy"
] | [
"X-linked",
"defects in the STA gene on Xq28",
"mutation in exon 4 of the STA gene"
] | [
"scapulo-peroneal muscle weakness and wasting",
"contractures of the tendo Achilles, elbows and paraspinal muscles",
"spine rigidity",
"unusually severe, early presentation",
"predominantly proximal weakness",
"mild equinovarus deformity of the right foot",
"marked dystrophic abnormalities"
] | null | null | [
"Serum creatine kinase activity was elevated (1994 IU/I)"
] | [
"Normal expression of dystrophin",
"no detectable deletion in the corresponding gene",
"excluded a diagnosis of Duchenne muscular dystrophy",
"normal expression of alpha-sarcoglycan",
"defect in a sarcoglycan unlikely"
] |
duchenne:9521284 | Sarcolemmal defect and subsarcolemmal lesion in a patient with gamma-sarcoglycan deficiency. | [
"We report a case of gamma-sarcoglycanopathy with sarcolemmal defects and subsarcolemmal lesions indistinguishable from those in Duchenne muscular dystrophy. Both disorders share certain ultrastructure features that suggest a common pathogenesis related to primary deficiency of transmembrane glycoproteins (e.g., sa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gamma-sarcoglycanopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"gamma-sarcoglycanopathy"
] | null | [
"sarcolemmal defects",
"subsarcolemmal lesions indistinguishable from those in Duchenne muscular dystrophy",
"muscle fiber degeneration and necrosis"
] | null | null | [
"primary deficiency of transmembrane glycoproteins (e.g., sarcoglycans)",
"deficiency in dystrophin",
"secondary deficiency in sarcoglycans",
"lack of transmembrane glycoproteins"
] | null |
duchenne:9425255 | The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. | [
"Antibodies to dystrophin have increased accuracy in the diagnosis of Duchenne/Becker muscular dystrophy (D/BMD). Both typical and 'atypical' presentations of this disease can be confirmed by demonstrating qualitative and quantitative defects in the expression of dystrophin protein. However, owing to the propensity... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Antibodies to dystrophin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Duchenne/Becker muscular dystrophy (D/BMD)",
"D/BMD"
] | null | null | null | null | [
"Antibodies to dystrophin",
"qualitative and quantitative defects in the expression of dystrophin protein",
"dystrophin degradation",
"utrophin/dystrophin related protein (DRP"
] | null |
duchenne:9394603 | [A case of pacemaker implantation for complete atrioventricular block associated with Duchenne muscular dystrophy]. | [
"We report here a case of Duchenne muscular dystrophy (DMD) who underwent pacemaker implantation for complete atrioventricular block. This 30 year-old male had the deletion of exon 45-52 in the dystrophin gene and complained of palpitation and precordial oppression. Because his electrocardiogram showed complete atr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Duchenne muscular dystrophy (DMD)",
"complete atrioventricular block",
"DMD"
] | [
"deletion of exon 45-52 in the dystrophin gene"
] | [
"palpitation",
"precordial oppression",
"complete atrioventricular block"
] | [
"pacemaker implantation",
"permanent pacemaker was implanted",
"pacemaker implantation",
"mechanical ventilation with chest respirators",
"nasal intermittent positive pressure ventilators",
"pacemaker implantation"
] | null | null | null |
duchenne:9270600 | Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin. | [
"Primary deficiency of merosin is the cause of the classic form of congenital muscular dystrophy (CMD) accompanied by brain white matter abnormalities. We report a female infant with dystrophinopathy who was deficient in merosin in skeletal muscle. The patient had a phenotype of typical CMD and white matter abnorma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Primary deficiency of merosin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"congenital muscular dystrophy (CMD)",
"dystrophinopathy",
"CMD",
"Duchenne muscular dystrophy",
"dystrophinopathy",
"CMD"
] | [
"complete lack of exons 71 through 74",
"only the mutant gene was expressed",
"skewed X-inactivation",
"dystrophin abnormality"
] | [
"brain white matter abnormalities",
"white matter abnormalities",
"white matter abnormalities"
] | null | null | [
"Primary deficiency of merosin",
"deficient in merosin in skeletal muscle",
"expression of dystroglycan and syntrophin was also greatly reduced",
"immunoreactivity for the antibodies against the cysteine-rich/C-terminal domains of dystrophin was absent in the sarcolemma",
"secondary deficiency of merosin",
... | null |
duchenne:9222202 | Xp21 muscular dystrophy due to X chromosome inversion. | [
"Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n brothers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Duchenne muscular dystrophy",
"dystrophinopathy",
"Xp21 muscular dystrophy"
] | [
"inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2)",
"maternal passage of a structurally abnormal X chromosome"
] | null | null | null | null | null |
duchenne:9188656 | Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum. | [
"The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The so-called \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Xp21 contiguous deletion syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Xp21 contiguous deletion syndrome",
"complex glycerol kinase deficiency (GKD)",
"classical Duchenne muscular dystrophy (DMD)",
"milder dystrophic myopathy",
"GKD",
"nonsyndromic",
"complex GKD",
"ACC",
"Xp21 contiguous deletion syndrome"
] | [
"the genomic deletion. It is at least 3 million base pairs in length"
] | [
"adrenal hypoplasia",
"agenesis of the corpus callosum (ACC)",
"ACC"
] | null | null | null | null |
duchenne:9259292 | Recent advances in diagnosis of the childhood muscular dystrophies. | [
"Recent advances in molecular genetics research have revolutionised our understanding of the childhood muscular dystrophies. The first breakthrough came in 1987 with the identification of the gene for dystrophin, the protein that is abnormal in X-linked Duchenne muscular dystrophy. Dystrophin is bound to a complex ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recent advances in molecular genetics research have revolutionised our understanding of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n childhood muscula... | [
"childhood muscular dystrophies",
"Duchenne muscular dystrophy",
"muscular dystrophy",
"autosomal recessive limb-girdle muscular dystrophy",
"congenital muscular dystrophy"
] | [
"gene for dystrophin",
"protein that is abnormal",
"X-linked",
"primary abnormalities of these proteins",
"autosomally inherited"
] | null | [
"genetic counselling",
"prenatal diagnosis"
] | null | [
"alpha- (adhalin) beta-, gamma- and delta-sarcoglycan are deficient",
"extracellular matrix protein merosin (alpha2-laminin)",
"deficient"
] | null |
duchenne:9220532 | Noninvasive ventilation during percutaneous gastrostomy placement in Duchenne muscular dystrophy. | [
"Noninvasive positive pressure ventilation (NPPV) is used for respiratory support in a number of diseases causing acute or chronic respiratory failure. We describe a novel use of NPPV to provide respiratory support during sedation for percutaneous placement of a gastrostomy tube in a patient with Duchenne muscular ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Noninvasive positive pressure ventilation (NPPV)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"neuromuscular disease"
] | null | [
"acute or chronic respiratory failure",
"severe respiratory insufficiency",
"progressive dysphagia",
"undernutrition",
"quality of life and nutritional status"
] | [
"Noninvasive positive pressure ventilation (NPPV)",
"respiratory support",
"novel use of NPPV to provide respiratory support",
"sedation",
"percutaneous placement of a gastrostomy tube",
"NPPV to provide respiratory support",
"gastrointestinal endoscopies",
"NPPV",
"intubation",
"initiation of gas... | null | null | [
"without complication",
"lack of definitive airway protection"
] |
duchenne:9150736 | A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis. | [
"A case of Duchenne muscular dystrophy is described with an unusual mutation consisting of a 17-bp deletion within exon 47 of the dystrophin gene. The sequences on either side of the deletion have a high degree of intrastrand base complementarity. It is hypothesised that the mechanism generating the deletion may ha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Duchenne muscular dystrophy"
] | [
"unusual mutation consisting of a 17-bp deletion within exon 47 of the dystrophin gene",
"The sequences on either side of the deletion have a high degree of intrastrand base complementarity",
"formation of hairpin loop structure in a single strand of DNA",
"enzymatic degradation at unpaired regions within the... | null | null | null | null | null |
duchenne:9044410 | Muscle pathology and clinical features of the sarcolemmopathies. | [
"We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the clinical features and the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n muscle pathology\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"congenital muscular dystrophy (CMD)",
"Duchenne/Becker muscular dystrophy",
"sarcolemmopathy"
] | null | [
"similarities in histological findings",
"structural weakening of the sarcolemma with an increased susceptibility to rupture under mechanical stress"
] | null | null | [
"merosin deficiency",
"sarcoglycan (adhalin) deficiency"
] | null |
duchenne:8981959 | Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscle-wasting disorder with an incidence of approximately 1/3,500 male births. Females are also affected, in rare instances. The manifestation of mild to severe symptoms in female carriers of dystrophin mutations is often the result of the prefe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"severe, progressive, X-linked",
"muscle-wasting disorder",
"DMD",
"DMD",
"Turner syndrome (45,X)",
"DMD"
] | [
"dystrophin mutations",
"preferential inactivation of the X chromosome carrying the normal dystrophin gene",
"inactivated the normal X chromosome",
"skewed pattern of X inactivation",
"X;autosome translocations, which disrupt the dystrophin gene",
"the remaining X chromosome carries a DMD mutation",
"ho... | [
"mild to severe symptoms"
] | null | null | null | [
"karyotypically normal"
] |
duchenne:9009996 | Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. | [
"We describe a unique six-generation, highly consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan. Three separate clinical phenotypes of progressive muscular dystrophy were identified in this large family. Seven patients developed a classical limb-girdle varian... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a unique \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n six-generation, highly consanguineous family\n <span style=\"font-size: 0.8em; font-w... | [
"progressive muscular dystrophy",
"classical limb-girdle variant of muscular dystrophy (LGMD)",
"slowly progressive distal myopathy",
"polymorphic autosomal recessive form of muscular dystrophy",
"LGMD",
"distal muscular dystrophy",
"autosomal recessive muscular dystrophy",
"LGMD type 2B (LGMD2B)",
... | [
"as an autosomal recessive trait",
"deletion in the dystrophin gene",
"linkage to chromosome 2p",
"locus D2S291",
"mutant gene near D2S291",
"D2S286 and D2S292",
"closest loci flanking the mutant gene",
"chromosome 2p-linked",
"allelic disorders"
] | [
"loss of ambulation within a 25-year course",
"confined to the tibial and calf muscles"
] | null | [
"isolated mountainous village",
"Russian province",
"Daghestan"
] | null | [
"non-specific myopathic changes"
] |
duchenne:9018456 | HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. | [
"Of the various muscular dystrophies, the dystrophinopathies are the most common, accounting for the majority of male muscle disease patients and for about 10% of female patients referred for the evaluation of muscular dystrophy or persistent high serum creatine kinase values (hyperCKemia). The approach to diagnosi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Of the various \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"muscular dystrophies",
"dystrophinopathies",
"muscle disease",
"muscular dystrophy",
"dystrophinopathies",
"Duchenne muscular dystrophy",
"muscular dystrophy",
"proximal, hyperCKemic muscular dystrophy",
"childhood-onset dystrophy",
"congenital muscular dystrophy",
"proximal muscular dystrophy"... | [
"autosomal recessive disease",
"mutations in one of the four sarcoglycan proteins"
] | null | [
"family genetic counseling",
"prenatal diagnosis",
"Genetic counseling",
"surgical interventions (eg, tendon lengthenings and spinal fusion)",
"steroid use",
"extent of respiratory support"
] | null | [
"persistent high serum creatine kinase values",
"hyperCKemia)",
"deficiency of a component of the muscular extracellular matrix. (merosin/laminin-alpha 2)"
] | [
"normal dystrophin findings",
"normal dystrophin",
"no family history of the disorder",
"normal dystrophin"
] |
duchenne:8761273 | Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size? | [
"In a 9-year-old boy with Duchenne muscular dystrophy we found a large in-frame deletion, spanning exons 10 to 53 of the dystrophin gene. The deletion removed almost all of the central rod domain of dystrophin. Using carboxyterminal dystrophin antibodies the immunohistochemical reaction was normal in all muscle fib... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"severe Duchenne"
] | [
"large in-frame deletion, spanning exons 10 to 53 of the dystrophin gene",
"deletion removed almost all of the central rod domain of dystrophin",
"in-frame dystrophin deletions",
"more than 36 exons"
] | [
"severe phenotype",
"severe disarray of the dystrophin network"
] | null | null | [
"dystrophin of abnormal size (160 kDa) and normal amount (about 100%)",
"Very short dystrophin molecules"
] | [
"carboxyterminal dystrophin antibodies",
"immunohistochemical reaction was normal in all muscle fibers"
] |
duchenne:29542631 | Duchenne muscular dystrophy in a female patient : a case report. | [
"A female patient with Duchenne muscular dystrophy (DMD) with no prior family history of DMD is described. She presented with proximal muscle weakness, enlarged calf muscles and an elevated serum creatine kinase (CK). Histological examination of skeletal muscle revealed myopathic changes and immunoperoxidase examin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"proximal muscle weakness",
"enlarged calf muscles"
] | null | null | [
"elevated serum creatine kinase (CK)"
] | [
"no prior family history of DMD"
] |
duchenne:8952356 | [Dystrophin abnormality in a patient with polymyositis associated with primary biliary cirrhosis and myocardial injury]. | [
"We have reported a 58-year-old Japanese female with polymyositis, primary biliary cirrhosis (PBC) and arrhythmia. In contrast to the previously reported 13 cases of polymyositis associated with PBC, symptoms and laboratory data abnormalities responded to oral administration of predonisolone. Interestingly, immunoh... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have reported a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"polymyositis",
"primary biliary cirrhosis (PBC)",
"polymyositis",
"PBC",
"Duchenne muscular dystrophy"
] | null | [
"arrhythmia",
"laboratory data abnormalities",
"secondary abnormality of the link between the basal lamina and cytoskeleton via the dystrophinglycoprotein complex",
"muscle fiber degeneration"
] | [
"oral administration of predonisolone"
] | [
"Japanese"
] | null | null |
duchenne:8863344 | A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation. | [
"The mutations in one-third of both Duchenne and Becker muscular dystrophy patients remain unknown because they do not involve gross rearrangements of the dystrophin gene. Here we report the first example of multiple exon skipping during the splicing of dystrophin mRNA precursor encoded by an apparently normal dyst... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The mutations in one-third of both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Duchenne",
"Becker muscular dystrophy",
"dystrophinopathy",
"Becker muscular dystrophy",
"dystrophinopathy"
] | [
"multiple exon skipping during the splicing of dystrophin mRNA precursor",
"apparently normal dystrophin gene",
"amplified product encompassing exons 67-79 of dystrophin cDNA",
"to be smaller than that of the wild-type product",
"the 3' end of exon 70 was directly connected to the 5' end of exon 75 and",
... | [
"excessive fatigue",
"faint and discontinuous staining of the N-terminal and rod domains of dystrophin"
] | null | [
"Japanese"
] | [
"high serum creatine kinase activity"
] | [
"gross rearrangements of the dystrophin gene",
"no staining at all of the C-terminal domain of dystrophin",
"dystrophin gene is intact",
"not disclose any particular nucleotide change that could be responsible for the multiple exon skipping observed"
] |
duchenne:8826437 | Genetic counseling of isolated carriers of Duchenne muscular dystrophy. | [
"It has recently become possible to detect female carriers of Duchenne muscular dystrophy with no affected male relative in the family. These \"isolated carriers\" represent about 10% of women with high serum creatine phosphokinase (CPK) levels and clinical evidence of a muscle disease. Most isolated carriers ascer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It has recently become possible to detect \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Duchenne muscular dystrophy",
"recessive \"limb-girdle muscular dystrophy\"",
"Duchenne muscular dystrophy"
] | [
"which of the dystrophin alleles segregating in the family harbors the mutation in the heterozygote",
"X inactivation patterns and inheritance of X chromosomes",
"at-risk dystrophin gene",
"the mutation was a de novo event, two in the paternal germ-line, and one in the maternal germ-line"
] | [
"clinical evidence of a muscle disease",
"symptoms of a muscular dystrophy"
] | [
"genetic counseling",
"prenatal diagnosis",
"genetic counseling",
"accurate genetic counseling",
"prenatal diagnosis"
] | null | [
"high serum creatine phosphokinase (CPK) levels"
] | null |
duchenne:8832134 | Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy. | [
"Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining. The myopathic sy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease",
"Duchenne muscular dystrophy",
"pneumonia"
] | [
"two gene mutations; a novel single-base deletion in exon 3 of the alpha-galactosidase gene, and a dystrophin gene deletion extending from exon 46 to exon 50"
] | [
"muscle weakness",
"myopathic symptoms",
"died",
"hypohidrosis",
"angiokeratoma"
] | null | [
"Japanese"
] | null | [
"negative dystrophin staining",
"No clinical manifestations of Fabry disease were observed"
] |
duchenne:8784808 | Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins. | [
"Introduction of the myogenic-determination gene MyoD forces non-muscle cell cultures into myogenesis, thereby inducing expression of muscle-specific proteins and facilitating their analysis. In several MyoD-transfected fibroblasts, immunohistochemical detection showed expression of desmin after three days, of titi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Introduction of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myogenic-determination gene MyoD forces non-muscle cell cultures into myogenesis\n <sp... | [
"Duchenne Muscular Dystrophy"
] | [
"myogenic-determination gene MyoD forces non-muscle cell cultures into myogenesis",
"increases transcription of the dystrophin gene",
"unknown, non-deletion mutation",
"CGA-->TGA nonsense mutation in the rod domain at basepair 6492"
] | null | [
"MyoD-transfection"
] | null | [
"expression of desmin",
"of titin"
] | null |
duchenne:8629931 | Acute gastric dilatation in Duchenne muscular dystrophy: a case report and review of the literature. | [
"Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder of childhood. Its clinical characteristics that derive from skeletal muscle involvement have been well described. Less well known is that visceral smooth muscle is affected in DMD. We report a case of a 19-year-old man with DMD who present... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"neuromuscular disorder",
"DMD",
"DMD",
"costochondritis",
"DMD"
] | null | [
"skeletal muscle involvement",
"visceral smooth muscle",
"severe nonradiating epigastric pain",
"Acute gastric dilation",
"gastrointestinal manifestations",
"gastric dilatation",
"intestinal pseudoobstruction",
"acute gastric atony"
] | null | null | null | [
"was not considered in the differential diagnosis"
] |
duchenne:8810859 | [The effect of clomipramine to nocturnal periodic hypoxemia in Duchenne muscular dystrophy]. | [
"Respiratory insufficiency is a major cause of death in Duchenne muscular dystrophy (DMD). The earliest sign is a hypoventilation which appears in REM sleep. We administered 20 mg of clomipramine hydrochloride before sleep to two DMD patients with periodic nocturnal hypoxemia. The complaints such as morning headach... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Respiratory insufficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"Respiratory insufficiency",
"death",
"hypoventilation",
"periodic nocturnal hypoxemia",
"morning headache",
"nausea",
"somnolence",
"complete suppression of REM sleep",
"disappearance of periodic hypoxemia",
"intractable constipation",
"dramatically improved the nocturnal periodic hypoventilati... | [
"administered 20 mg of clomipramine hydrochloride before sleep",
"clomipramine",
"Permanent REM sleep suppression"
] | null | null | [
"therapeutic effects lasted less than three months"
] |
duchenne:8732491 | Quantitative and qualitative alterations of dystrophin are expressed in muscle cell cultures of Xp21 muscular dystrophy patients (Duchenne and Becker type). | [
"The authors studied skeletal muscle cell cultures from four control subjects, two patients with Duchenne muscular dystrophy, two Duchenne carriers and three patients with Becker muscular dystrophy with different phenotypes. Western blotting was performed on well-differentiated myotubes and compared with the result... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors studied \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n skeletal muscle cell cultures\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Duchenne muscular dystrophy",
"Duchenne",
"Becker muscular dystrophy"
] | [
"early expression of the Xp21 gene defect"
] | [
"band of dystrophin closely corresponded to the one observed in muscle tissue",
"both quantitative and qualitative defects"
] | null | null | null | null |
duchenne:8704385 | Nursing practice management: muscular dystrophy. | [
"The Nursing Practice Management section displays a health care plan for a student with Duchenne Muscular Dystrophy. Following a brief overview of the pathophysiology of the disorder, a case study is presented from which a nursing process-based plan of care is derived."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The Nursing Practice Management section displays a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n health care plan\n <span style=\"font-size: 0.8em; font... | [
"Duchenne Muscular Dystrophy"
] | null | null | [
"health care plan",
"nursing process-based plan of care"
] | null | null | null |
duchenne:8585572 | DMD and BMD in the same family due to distinct mutations. | [
"We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family with a boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | null | [
"two distinct deletions with breakpoints in different exons",
"Xp21",
"different dystrophin mutations in separate haplotypes"
] | null | null | null | [
"high CK plasma levels"
] | [
"asymptomatic"
] |
duchenne:8533818 | Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. | [
"A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 7-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother",
"coincidental inheritance of the maternal DMD gene and of a paternal gene"
] | [
"gross motor delay",
"failure to thrive",
"rhabdomyolysis",
"acute asthmatic episode",
"electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern",
"unusually early and severe manifestations of DMD"
] | null | null | [
"elevated creatine kinase (CK) serum levels",
"Idiopathic\" hyperCKemia",
"hyperCKemia"
] | null |
duchenne:7668831 | Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is characterized by a defect in dystrophin, a high molecular weight protein that is located predominantly in muscle, but which has been detected in brain. Brain dystrophin has been localized to the synapse, in the postsynaptic density (PSD), and is absent in the mdx mouse, an anim... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"mdx",
"DMD",
"DMD"
] | [
"defect in dystrophin",
"427-kd dystrophin was absent in the PSD from DMD brain"
] | [
"cognitive impairment",
"cognitive impairment"
] | null | null | [
"dystrophin deficiency"
] | null |
duchenne:7657792 | Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. | [
"Homozygous adhalin gene mutations were found in three patients from two consanguineous families with autosomal recessive childhood onset muscular dystrophy. Muscle biopsies from patients in each family showed complete absence of adhalin. Sequencing of adhalin cDNA prepared from skeletal muscle by reverse transcrip... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Homozygous adhalin gene mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"autosomal recessive childhood onset muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"Homozygous adhalin gene mutations",
"cytosine to thymidine substitution at nt 229",
"an adenine to guanine substitution at nt 410 and a 15-base insertion between nt 408 and 409",
"adhalin gene mutations"
] | [
"dystrophic changes in the skeletal muscle",
"dystrophin deficiency"
] | null | null | [
"complete absence of adhalin",
"absence of adhalin in the skeletal muscle",
"Adhalin deficiency"
] | null |
duchenne:7496177 | A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. | [
"We report a 4-yr and 5-month-old boy with severe clinical features of an early-onset Duchenne muscular dystrophy, who had a very short (110 kDa) dystrophin at the sarcolemma. The patient had a large deletion (exons 2-44) of the dystrophin gene which was predicted to cause a reading frame shift. Sequence analysis o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 4-yr and 5-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"early-onset Duchenne muscular dystrophy"
] | [
"large deletion (exons 2-44) of the dystrophin gene which was predicted to cause a reading frame shift",
"alternatively spliced gene product from exons 1 to 51 that caused restoration of the reading frame",
"mRNA corresponding to the DNA deletion",
"extremely short dystrophin lacking the entire actin-binding ... | [
"severe clinical features"
] | null | null | [
"antibodies against the C-terminus, cysteine-rich region and last three of 24 repeat units of the central rod-domain",
"Immunostaining for dystrophin-associated glycoproteins (DAGs: 43 and 50 K) and merosin",
"Utrophin staining was positive but fainter than other DMD muscles"
] | [
"not for the remaining antibodies for dystrophin that recognize the N-terminal and proximal rod-domains",
"were preserved"
] |
duchenne:7645705 | Tracheal occlusion in the prone position in an intubated patient with Duchenne muscular dystrophy. | [
"A 15-year-old boy with Duchenne muscular dystrophy developed complete airway obstruction under general anaesthesia when positioned prone for spinal surgery. Tracheobronchial compression against vertebral bodies facilitated by a shortened sternovertebral distance due to thoracic lordoscoliosis is suggested as the c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 15-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy"
] | null | [
"complete airway obstruction",
"Tracheobronchial compression against vertebral bodies",
"shortened sternovertebral distance",
"thoracic lordoscoliosis"
] | [
"general anaesthesia",
"positioned prone for spinal surgery"
] | null | null | null |
duchenne:7635465 | X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. | [
"The X-chromosome activity states of 11 manifesting carriers of dystrophinopathies, all with normal karyotypes, were estimated by restriction fragment length polymorphism (RFLP)-methylation analysis with the probes M27 beta (DXS255), p2-19(DXS605) and pSPT/PGK (PGK1) to test the role of skewed X-inactivation ratios... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X-chromosome activity states\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"dystrophinopathies",
"Duchenne muscular dystrophy (DMD) carriers"
] | [
"X-chromosome activity states",
"skewed X-inactivation ratios",
"preferential inactivation of the putative X chromosome carrying the normal dystrophin allele in > or = 90% of their peripheral lymphocytes",
"neither of the two X chromosomes was preferentially inactivated with respect to their parental origin",... | [
"non-apparent deviant ratios (60:40 and 70:30)"
] | null | null | null | [
"normal karyotypes",
"the three markers employed yielded no information",
"non-manifesting"
] |
duchenne:8532630 | Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child. | [
"The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sister of a child affected by Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font... | null | null | [
"death"
] | [
"genetic counselling"
] | null | null | [
"no methods for DNA investigation",
"family had never been studied for linkage with polymorphic probes on the chromosomal region Xp21",
"did not reveal deletions in 19 exons spanning the hot-spot regions for deletions within the dystrophin gene in Xp21"
] |
duchenne:7670264 | Muscular dystrophy misdiagnosed as hepatic disease in a child with coeliac disease. | [
"A 13-month-old boy presented with elevated serum aminotransferases and a flat small bowel mucosa indicating coeliac disease. He improved clinically on a gluten-free diet but serum aminotransferases continued to increase. This was found to be caused by an occult Duchenne muscular dystrophy. The case illustrates the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 13-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"coeliac disease",
"occult Duchenne muscular dystrophy",
"coeliac"
] | null | [
"flat small bowel mucosa"
] | [
"gluten-free diet",
"gluten-free diet"
] | null | [
"elevated serum aminotransferases",
"serum aminotransferases continued to increase",
"elevated serum aminotransferases"
] | null |
duchenne:7477755 | An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. | [
"We report a 5-year-old girl with clinical symptoms of typical Duchenne muscular dystrophy in males. The girl showed dramatic elevations of serum creatine kinase, and muscle biopsy histopathology consistent with a severe dystrophic myopathy. Cytogenetic analysis revealed an X:22 translocation (46,X,t [X;22] [p21.2;... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 5-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"severe dystrophic myopathy"
] | [
"X:22 translocation (46,X,t [X;22] [p21.2;11.2])",
"RNA to be positive for primers covering the first 85% of the dystrophin coding sequence, and negative for the carboxyl-terminal 15%",
"translocation breakpoint occurs towards the 3' end of the gene",
"translocated dystrophin gene is still expressed into a tr... | [
"clinical symptoms of typical Duchenne muscular dystrophy"
] | null | null | [
"dramatic elevations of serum creatine kinase",
"strong membrane immunostaining of dystrophin with antibodies directed against the amino terminus of the protein",
"vastly reduced immunostaining with carboxyl-terminal antibodies",
"major immunoreactive protein of approximately 350 kDa at approximately 20% leve... | null |
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