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:7752004 | Dysmorphic features in patients with complex glycerol kinase deficiency. | [
"Complex glycerol kinase deficiency is a contiguous gene syndrome consisting of a deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features simil... | [
"<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 Complex glycerol kinase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Complex glycerol kinase deficiency",
"Duchenne muscular dystrophy"
] | [
"contiguous gene syndrome",
"deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita"
] | [
"mildly dysmorphic features similar to those seen in",
"an \"hourglass\" appearance of the middle of the face",
"hypertelorism",
"rounded palpebral fissures",
"esotropia",
"wide, flattened earlobes",
"downturned mouth",
"characteristic facies"
] | null | null | [
"complex glycerol kinase deficiency"
] | null |
duchenne:7618913 | Duchenne muscular dystrophy presenting with failure to thrive. | [
"Three patients with Duchenne muscular dystrophy presenting with failure to thrive in infancy are described. Their families noted poor growth and sought medical advice up to six months before the diagnosis was suspected. Growth charts showed weight loss between 4 and 18 months of age. Length growth was affected whi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three 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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"failure to thrive",
"poor growth",
"weight loss",
"Length growth was affected",
"Failure to thrive",
"Poor growth in the first years",
"eventual short stature",
"Failure to thrive"
] | null | null | null | [
"growth in head circumference remained unaffected",
"No causes of failure to thrive were found"
] |
duchenne:7573761 | A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom. | [
"A 29-year-old female developed dilated cardiomyopathy at 20 years of age but with no muscle symptoms. Her 2-year-old son with Duchenne muscular dystrophy (DMD)_had no demonstrable deletion in the dystrophin gene, but all fibers except for 5% 'revertant' fibers in a muscle biopsy specimen had no dystrophin. Both sk... | [
"<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; ... | [
"dilated cardiomyopathy",
"idiopathic cardiomyopathy"
] | null | null | null | null | [
"high serum creatine kinase level"
] | [
"no muscle symptoms",
"no demonstrable deletion in the dystrophin gene",
"manifesting DMD carrier"
] |
duchenne:7723955 | Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. | [
"We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or ambiguous diagnosis prior to dystrophin immunofluorescence testing. We assessed clinical severity by a standardized protocol, measured X-chromosome inactivation p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied 19 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchenne muscular dystrophy (DMD) gene",
"dystrophinopathy",
"mild disease",
"dystrophinopathy",
"DMD"
] | [
"equal numbers of normal and mutant dystrophin genes in peripheral blood DNA",
"random\" X-inactivation",
")",
"preferential use of the mutant dystrophin gene",
"\"skewed\" X-inactivation)",
"random X-inactivation",
"skewed X-inactivation",
"skewed X-inactivation",
"random inactivation",
"skewed X... | [
"asymptomatic to mild disability",
"only minor histopathologic changes",
"clinical manifestations ranged from mild to severe",
"severe symptoms",
"morphologic changes of dystrophy",
"biochemical \"normalization",
"genetic \"normalization",
"Biochemical normalization",
"cycles of degeneration and reg... | [
"gene delivery (gene therapy)"
] | null | [
"dystrophin content of muscle was > 60% of normal",
"low levels of dystrophin (< 30% on average)",
"higher dystrophin content in muscle",
"number of normal dystrophin genes",
"dystrophin content was on the average 1.5-fold less then expected (-1.54 +/- 3.38)"
] | [
"erroneous or ambiguous diagnosis",
"counteract any effect of biochemical normalization"
] |
duchenne:7794517 | In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. | [
"We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern.",
"A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have previously shown that \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-wei... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"pregnancy",
"DMD",
"severe disorder",
"pregnancy"
] | null | [
"variable dystrophin staining pattern"
] | null | [
"white"
] | [
"absence of dystrophin"
] | [
"no dystrophin"
] |
duchenne:7781237 | [Complete deficiency of adhalin (50 kDa DAG) in skeletal muscle of malignant limb-girdle muscular dystrophy]. | [
"Malignant limb-girdle muscular dystrophy was first described by Miyoshi and co-workers in 1966, and has clinical features similar to Duchenne muscular dystrophy but is inherited through an autosomal recessive trait. This paper describes a patient with malignant limb-girdle muscular dystrophy with complete deficien... | [
"<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 Malignant limb-girdle muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Malignant limb-girdle muscular dystrophy",
"Duchenne muscular dystrophy",
"malignant limb-girdle muscular dystrophy",
"Duchenne type"
] | [
"inherited through an autosomal recessive trait"
] | [
"gait became unsteady",
"motor dysfunction in the lower extremities",
"Muscle atrophy",
"calves appeared hypertrophic",
"generalized muscle weakness, predominantly in the pelvic girdle muscle",
"Muscle tone was slightly hypotonic",
"mild myopathic pattern",
"marked low density in the upper legs and mi... | null | [
"Japanese"
] | [
"complete deficiency of adhalin (50 kDa dystrophin-associated glycoprotein (DAG)) in skeletal muscle",
"Serum creatine kinase level was elevated to 30 times above the upper limit of the normal range"
] | [
"difficulty in standing up from a sitting position",
"could walk without assistance",
"could walk with support",
"could not stand up without assistance",
"intelligence was normal",
"was not apparent",
"obesity",
"deep tendon reflexes of the legs were absent or hypoactive",
"sensory system appeared n... |
duchenne:7726234 | Duchenne muscular dystrophy and myotonic dystrophy in the same patient. | [
"We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy (DMD). The family of the propositus had a strong history of myotonic dystrophy, and there was an intrafamilial pathological expansion of the responsible CTG repeat between the mildly affected mother (160 repeats; norm... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on the first patient identified 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 myotonic dystrophy and Duchenne muscular dystrophy (DMD)\n ... | [
"myotonic dystrophy and Duchenne muscular dystrophy (DMD)",
"Myotonic dystrophy",
"Duchenne dystrophy"
] | [
"an intrafamilial pathological expansion of the responsible CTG repeat between the mildly affected mother (160 repeats; normal 27 repeats) and her more severely affected son (650 repeats), and his sister (650 repeats)",
"somatic mosaic"
] | [
"in muscle biopsy",
"ameliorate typical DMD clinical severity"
] | [
"still ambulatory"
] | null | [
"marked dystrophin deficiency"
] | null |
duchenne:7873253 | [A case of severe Becker muscular dystrophy diagnosed in early childhood--correlation between clinical severity and dystrophin testing]. | [
"Since the 14kb human Duchenne muscular dystrophy (DMD) cDNA was cloned and its protein product \"dystrophin\" was discovered, immunochemical, biochemical and genetic analyses of dystrophin (dystrophin testing) have provided an accurate diagnosis of DMD/Becker muscular dystrophy in the clinical field. We performed ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Since 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 14kb human Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"DMD/Becker muscular dystrophy",
"severe BMD"
] | [
"14kb human Duchenne muscular dystrophy (DMD)",
"in-frame type deletion from exon 45 to 48"
] | null | null | null | [
"C-terminus domain of dystrophin",
"faint band of 390 kDa",
"Dystrophin quantity was less than 10% of that compared to normal controls"
] | null |
duchenne:7709632 | [Congenital adrenal gland insufficiency and myopathy]. | [
"We report a rare case of a female newborn presenting with muscular hypotonia, pneumonia, and cardiovascular and renal insufficiency. Adrenal insufficiency was diagnosed clinically and proven by extremely low cortisone (0.4-0.8 microgram/dl) and high ACTH plasma levels. Myopathy was diagnosed clinically, as well as... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a rare 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Myopathy"
] | null | [
"muscular hypotonia",
"pneumonia",
"cardiovascular and renal insufficiency",
"Adrenal insufficiency",
"died",
"multiorgan failure",
"multiple porencephalic lesions"
] | [
"After 4 weeks of intensive care therapy"
] | null | [
"extremely low cortisone (0.4-0.8 microgram/dl) and high ACTH plasma levels"
] | [
"no abnormality in the region of the genes for adrenal hypoplasia and Duchenne muscular dystrophy"
] |
duchenne:7624173 | [Diagnostic problems of congenital muscular dystrophies in children]. | [
"Three children with a diagnosis of congenital muscular dystrophy are described. Because of the heterogeneity of these disorders the authors stress the necessity of differentiation with other causes of \"floppy infant\" syndrome, especially with Werdnig-Hoffmann disease, structural myopathies, and Duchenne progress... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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; border-radius: 0.35em;... | [
"congenital muscular dystrophy",
"Werdnig-Hoffmann disease",
"structural myopathies",
"Duchenne progressive muscular dystrophy"
] | null | [
"floppy infant\" syndrome",
"extensive hypodense area on brain CT scan"
] | null | null | null | null |
duchenne:7617241 | [Propofol in Duchenne muscular dystrophy]. | [
"The authors used propofol in continuous infusion (4 mg x kg-1 x h) fentanyl, O2/N2O in CMW without any myorelaxant in a 11-year-old patient with Duchenne's muscular dystrophy. This anesthesia technique proved to be safe and handy; allowing a nearly postoperative recovery of state of coscience; and ventilatory auto... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors used \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n propofol in continuous infusion (4 mg x kg-1 x h) fentanyl, O2/N2O in CMW\n <span style=\... | [
"Duchenne's muscular dystrophy"
] | null | [
"nearly postoperative recovery of state of coscience",
"ventilatory autonomy"
] | [
"propofol in continuous infusion (4 mg x kg-1 x h) fentanyl, O2/N2O in CMW",
"anesthesia technique"
] | null | null | [
"without any myorelaxant",
"without any cardio-vascular complication"
] |
duchenne:7547371 | Immunohistochemistry in the diagnosis of dystrophinopathies. | [
"Sixty-four muscle biopsies obtained from patients with Duchenne muscular dystrophy, limb-girdle dystrophy, congenital muscular dystrophy, or who referred for diagnosis were examined with histochemical methods for dystrophin staining with antidystrophin antibodies. Six atypical cases in whom the dystrophin expressi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Sixty-four \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 biopsies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy",
"limb-girdle dystrophy",
"congenital muscular dystrophy",
"Duchenne muscular dystrophy",
"congenital muscular dystrophy",
"limb-girdle muscle dystrophy",
"muscular dystrophy"
] | null | [
"dystrophin expression was inconsistent with both clinical and morphopathological pattern"
] | null | null | [
"dystrophin was partially represented",
"dystrophin was absent",
"dystrophin was present, but quantitatively reduced"
] | [
"dystrophin was absent",
"despite the lack of clinico-morphological signs supporting the diagnosis of Duchenne disease"
] |
duchenne:7484098 | Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy. | [
"Single muscle fibers, obtained at autopsy from a 22-year-old man with Duchenne muscular dystrophy were examined immunocytochemically and also using polymerase chain reaction (PCR). Dystrophin-positive cells were widespread in skeletal, cardiac, smooth muscle, and in brain cells. PCR and Southern blot analyses of D... | [
"<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 Single muscle fibers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Duchenne muscular dystrophy"
] | [
"deletion of exon 45 in the dystrophin gene",
"three bands corresponding to exons 44, 45, and 47",
", exons 44 and 47",
"somatic mosaicism for deletion in the dystrophin gene",
"mutation of the dystrophin gene"
] | [
"normal control muscle fibers",
"dystrophin-negative fibers",
"genotype of dystrophin-positive fibers differed from that of the dystrophin-negative fibers"
] | null | null | null | null |
duchenne:7955386 | Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. | [
"We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency. Karyotyping showed a deletion on the short arm of the X chromosome (p21.1 to p22.1). Molecular mapping revealed that the deletion extended ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Duchenne muscular dystrophy (DMD)",
"Xp21 syndrome"
] | [
"deletion on the short arm of the X chromosome (p21.1 to p22.1)",
"deletion extended from the 3' end of the DMD gene to a site telomeric to the loci for X-linked congenital adrenal hypoplasia",
"Xp21 contiguous gene deletion syndrome"
] | [
"adrenal insufficiency",
"distinctive cluster of otherwise unrelated single-gene disorders",
"adrenal insufficiency"
] | null | null | [
"hyperglycerolemia",
"glycerol kinase deficiency",
"glycerol kinase deficiency",
"creatine kinase activity"
] | null |
duchenne:7942846 | A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. | [
"X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy ... | [
"<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 X-linked deafness\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | null | [
"X-linked deafness",
"hereditary hearing impairment",
"X-linked dominant sensorineural hearing impairment",
"Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus",
"DXS997, located within the DMD gene",
"Recombination events at DXS992 (located within the DMD locus, 3' to exon 50 of the dystr... | [
"incomplete penetrance",
"auditory impairment",
"congenital, bilateral, profound, sensorineural, affecting all frequencies",
"bilateral, mild-to-moderate high-frequency sensorineural hearing impairment",
"delayed onset",
"nonsyndromic sensorineural hearing loss"
] | null | null | null | [
"without evidence of radiographic abnormality of the temporal bone",
"No recombination events were noted with the following markers within the DMD locus: 5'DYS II, intron 44, DXS997, and intron 50",
"no clinical evidence of Duchenne or Becker muscular dystrophy in any family member"
] |
duchenne:7833192 | Dilated cardiomyopathy and the dystrophin gene: an illustrated review. | [
"Cardiomyopathy is often found in patients with Duchenne and Becker muscular dystrophy, which are X linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects present in many different ways and cases of mild Becker muscular dystrophy have been described in which cardiomyopathy was severe.... | [
"<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 Cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Cardiomyopathy",
"Duchenne",
"Becker muscular dystrophy",
"muscle diseases",
"mild Becker muscular dystrophy",
"Duchenne muscular dystrophy",
"dilated cardiomyopathy",
"Duchenne",
"Becker muscular dystrophy",
"cardiomyopathy",
"dilated cardiomyopathy"
] | [
"X linked",
"mutations in the dystrophin gene",
"Dystrophin defects",
"X linked",
"dystrophin defects",
"New mutations in the dystrophin gene",
"dystrophin defects",
"unusual deletion in the dystrophin gene"
] | [
"cardiomyopathy",
"symptomatic skeletal myopathy",
"dilated cardiomyopathy",
"dilated cardiomyopathy",
"died",
"died",
"minor signs of limb girdle myopathy"
] | null | null | [
"slightly increased concentrations of serum creatine kinase"
] | [
"not complained of muscular weakness"
] |
duchenne:7936290 | Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype. | [
"We report a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies. The patient had a large inframe deletion extending from exons 3 to 41 of the dystrophin gene, which would be expected to cause the product... | [
"<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 Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"muscular dystrophy",
"Becker muscular dystrophy"
] | [
"large inframe deletion extending from exons 3 to 41 of the dystrophin gene",
"inframe deletion"
] | [
"clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies"
] | null | [
"Japanese"
] | [
"dystrophin protein composing only 53% of the normal polypeptide chain",
"dystrophin-related polypeptide was detectable",
"antibody directed against the carboxyl-terminal part of the polypeptide",
"carboxyl-terminal was faint and patchy",
"lack of the amino-terminal, actin-binding domain of dystrophin"
] | [
"did not obtain evidence for alternative splicing or for RNA editing",
"not with antibodies directed against the amino-terminal part"
] |
duchenne:7802009 | Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. | [
"A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A pair 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | null | [
"heterozygous carriers for a deletion in the DMD gene",
"opposite X inactivation",
"partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin",
"X inactivation"
] | null | null | null | null | null |
duchenne:8069990 | Succinylcholine-induced cardiac arrest in children with undiagnosed myopathy. | [
"Two paediatric cases are reported in which unexpected, life-threatening arrhythmias occurred. Routine induction of general anaesthesia with thiopentone, 5 mg.kg-1, in one and with halothane in the other, and succinylcholine 1.25-1.5 mg.kg-1 i.v. was followed by the development of wide complex tachyarrhythmia with ... | [
"<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 paediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"dystrophin-deficient muscular dystrophy",
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"succinylcholine-induced rhabdomyolysis",
"occult myopathy"
] | null | [
"unexpected, life-threatening arrhythmias",
"wide complex tachyarrhythmia",
"hypotension",
"asystole",
"uneventful",
"arrhythmias",
"sudden, life-threatening arrhythmias"
] | [
"Routine induction of general anaesthesia with thiopentone, 5 mg.kg-1,",
"with halothane",
"succinylcholine 1.25-1.5 mg.kg-1 i.v.",
"resuscitated with tracheal intubation, 100% oxygen, manual ventilation",
"intravenous lidocaine and bicarbonate",
"intubation, manual ventilation, 12 min of CPR and i.v. cal... | null | [
"hyperkalaemia"
] | [
"despite pre-treatment with atropine",
"received dantrolene",
"no neurological sequelae",
"previously unsuspected"
] |
duchenne:8068162 | Chronic respiratory failure in limb-girdle muscular dystrophy: successful long-term therapy with nasal bilevel positive airway pressure. | [
"Chronic respiratory failure is a major factor contributing to mortality in progressive neuromuscular disorders. Among the muscular dystrophies, respiratory failure most commonly occurs with Duchenne dystrophy, while in Becker, limb-girdle, and facioscapulo-humeral dystrophies, respiratory failure is infrequent and... | [
"<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 Chronic respiratory failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"progressive neuromuscular disorders",
"muscular dystrophies",
"Duchenne dystrophy",
"Becker",
"limb-girdle",
"facioscapulo-humeral dystrophies",
"myopathic disease",
"limb-girdle type of dystrophy",
"limb-girdle dystrophy",
"neuromuscular causes"
] | null | [
"Chronic respiratory failure",
"respiratory failure",
"respiratory failure",
"nonambulatory, advanced functional stage",
"distribution of weakness",
"muscle pathology",
"chronic alveolar hypoventilation",
"respiratory failure",
"Respiratory failure",
"respiratory failure"
] | [
"satisfactory ventilation has been maintained for more than a year using a type of non-invasive intermittent positive pressure ventilation, with a bilevel positive airway pressure device (Bi-PAP), administered through a nasal mask during sleeping hours",
"nocturnal, nasal administration of continuous airway press... | null | null | [
"locomotor disabilities were still mild"
] |
duchenne:8033374 | Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. | [
"We report a patient with X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism in whom there were no clinical or biochemical features of either glycerol kinase deficiency or Duchenne muscular dystrophy. (The adrenal hypoplasia congenita and glycerol kinase loci map in Xp21 distal to Duchenne mus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 X-linked\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"adrenal hypoplasia congenita",
"adrenal hypoplasia congenita and glycerol kinase loci map in Xp21 distal to Duchenne muscular dystrophy, and proximal to DXS727)",
"adrenal hypoplasia congenita"
] | [
"X-linked",
"absence of DXS319, which lies near the adrenal hypoplasia congenita deletion critical region, and the presence of DXS727, which is distal to the gene",
"one glycerol kinase exon product from PCR primers P17/P18 which lies within the glycerol kinase gene",
"X-linked",
"gene locus resulting in hy... | [
"hypogonadotrophic hypogonadism",
"hypogonadotrophic hypogonadism",
"pituitary"
] | null | null | null | [
"no clinical or biochemical features of either glycerol kinase deficiency or Duchenne muscular dystrophy",
"absence of glycerol kinase deficiency"
] |
duchenne:7919618 | Dystrophin-related protein in Becker muscular dystrophy. | [
"A benign Becker muscular dystrophy (BMD) patient with a marked decrease in dystrophin exhibited remarkable expression of dystrophin-related protein (DRP) on most of the muscle cell membrane. A phenotypic Duchenne muscular dystrophy patient with a truncated form of dystrophin exhibited no DRP expression on the musc... | [
"<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 benign Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"benign Becker muscular dystrophy (BMD)",
"phenotypic Duchenne muscular dystrophy",
"BMD"
] | [
"truncated form of dystrophin",
"Increased DRP expression"
] | null | null | null | [
"marked decrease in dystrophin",
"lack of dystrophin"
] | null |
duchenne:8064304 | Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. | [
"Recently, we have demonstrated the specific deficiency of the 50-kDa dystrophin-associated glycoprotein (50DAG) in severe childhood autosomal recessive muscular dystrophy with Duchenne-like phenotype (SCARMD or AR-DLMD), a disease first reported in Tunisia and now presumed to be prevalent in North Africa and the M... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recently, we have demonstrated the specific \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of the 50-kDa dystrophin-associated glycoprotein (50DA... | [
"severe childhood autosomal recessive muscular dystrophy with Duchenne-like phenotype (SCARMD or AR-DLMD)",
"severe muscular dystrophy",
"AR-DLMD",
"AR-DLMD"
] | [
"genetic heterogeneity"
] | [
"phenotype indistinguishable from that of AR-DLMD"
] | null | [
"Tunisia",
"North Africa",
"Middle East",
"caucasoid",
"negroid Brazilian",
"Arab",
"negroid",
"caucasoid Brazilian"
] | [
"deficiency of the 50-kDa dystrophin-associated glycoprotein (50DAG)",
"deficiency of the 50DAG",
"50DAG deficiency",
"50DAG deficiency"
] | [
"undiagnosed or misdiagnosed as having Duchenne or severe Becker muscular dystrophy",
"normal expression of the 50DAG and other dystrophin-associated proteins"
] |
duchenne:8201552 | Atypical case of Becker's muscular dystrophy. Early identification and management. | [
"A case of a child with Becker's muscular dystrophy is presented. Because of the genetic and clinical similarity with the more common Duchenne muscular dystrophy, these two diseases are compared. Since muscular dystrophy often initially presents with toe walking, flat-foot, and waddling gait, podiatrists may be the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A 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 child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Becker's muscular dystrophy",
"Duchenne muscular dystrophy",
"muscular dystrophy"
] | null | [
"toe walking",
"flat-foot",
"waddling gait"
] | null | null | null | null |
duchenne:8066032 | Prenatal exclusion of Duchenne muscular dystrophy by fetal muscle biopsy. | [
"A fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18-gauge biopsy needle. A positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin excluded Duchenne muscular dystrophy from this at-risk male."
] | [
"<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 fetal thigh muscle biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy"
] | null | null | null | null | [
"positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin"
] | null |
duchenne:8160758 | Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy. | [
"The occurrence of 2 different intragenic deletions (exons 10-44 and exon 45, respectively) is reported in 2 male relatives affected with Duchenne muscular dystrophy, both showing the same haplotype for DNA markers not included in the deleted segment. The 2 different deletions seem to have occurred independently in... | [
"<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 occurrence of 2 different intragenic deletions (exons 10-44 and exon 45, respectively)\n <span style=\... | null | [
"occurrence of 2 different intragenic deletions (exons 10-44 and exon 45, respectively)",
"The 2 different deletions seem to have occurred independently in the same X chromosome",
"increased predisposition to mutations within the DMD locus"
] | null | null | null | null | null |
duchenne:8012192 | Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy. | [
"Two male cousins with severe childhood, autosomal recessive, Duchenne-like, muscular dystrophy (SCARMD) have been identified with a deficiency of the 50 kDa dystrophin-associated glycoprotein but normal expression of dystrophin. Both boys were from consanguineous marriages and were Asian, having originated from Pa... | [
"<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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"SCARMD"
] | null | [
"still able to walk at 13 and 12 yr",
"calf hypertrophy",
"less intense immunolabelling"
] | null | [
"Asian",
"Pakistan",
"North Africa",
"North African",
"North Africa"
] | [
"deficiency of the 50 kDa dystrophin-associated glycoprotein",
"utrophin"
] | [
"normal expression of dystrophin"
] |
duchenne:7827443 | Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF). | [
"A twin pregnancy following in vitro fertilization-embryo transfer coincidentally at risk for the X-linked recessive Duchenne muscular dystrophy is described. First-trimester prenatal diagnosis by transabdominal chorionic villus samplings on the dichorionic placentae and molecular linkage analysis could exclude 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 twin pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"twin pregnancy",
"twin pregnancy"
] | [
"X-linked recessive Duchenne muscular dystrophy",
"confined placental mosaicism 45,X/46XX in one of the fetuses"
] | null | [
"in vitro fertilization-embryo transfer",
"Genetic counseling",
", arguably two, fertilized egg be transferred",
"preimplantation diagnosis"
] | null | null | null |
duchenne:8209894 | Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family. | [
"Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions--one in the 5', proximal deletional hotspot region, and the other in the 3', more distal deletional hotspot region. ... | [
"<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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | null | [
"different maternal dystrophin gene haplotypes",
"different deletion mutations",
"two noncontiguous deletions--one in the 5', proximal deletional hotspot region, and the other in the 3', more distal deletional hotspot region",
"only the 5' deletion",
"single recombinational event between the 2 deleted regio... | null | null | null | null | null |
duchenne:8279470 | A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. | [
"The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The mutations in one-third 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne",
"Becker muscular dystrophy",
"Becker muscular dystrophy"
] | [
"defect in the splicing of precursor mRNA (pre-mRNA)",
"maternally inherited mutation of the dystrophin gene",
"a G-to-T transversion at the terminal nucleotide of exon 13, within the 5' splice site of intron 13",
"complete skipping of exon 13 during processing of dystrophin pre-mRNA",
"aberrant mRNA",
"t... | null | null | null | null | [
"gross rearrangements of the dystrophin gene"
] |
duchenne:8199594 | Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. | [
"Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked disorders arising from mutations in the (2.4 Mb) dystrophin gene at Xp21. We have applied the reverse transcriptase-polymerase chain reaction (RT-PCR) to identify a larger than normal dystrophin mRNA from a male with Duchenne muscular dyst... | [
"<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 and Becker muscular dystrophies (DMD and BMD)\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Duchenne and Becker muscular dystrophies (DMD and BMD)",
"Duchenne muscular dystrophy"
] | [
"allelic X-linked disorders",
"mutations in the (2.4 Mb) dystrophin gene at Xp21",
"splice-site mutation at the exon 26:intron 26 junction where a T to G substitution prevented normal RNA processing. A cryptic splice-site, downstream of the mutation, was activated during processing, resulting in the inclusion o... | [
"gonadal mosaicism"
] | [
"conventional genetic counselling"
] | null | null | null |
duchenne:7917130 | Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy. | [
"We report the molecular diagnosis of Duchenne muscular dystrophy (DMD) in an extended pedigree by use of a conformational polymorphism detected by the SSCP method, which allowed direct prenatal diagnosis and carrier detection while no DNA from an affected boy was available."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We 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 molecular diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)"
] | null | null | null | null | null | [
"no DNA from an affected boy was available"
] |
duchenne:7512107 | Isolated glycerol kinase deficiency in a neonate. | [
"Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy. Developmental delay is a consistent feature of ... | [
"<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 Glycerol kinase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"congenital adrenal hypoplasia",
"Duchenne muscular dystrophy",
"microdeletion syndrome"
] | [
"microdeletion in the p21 region of the X chromosome"
] | [
"Developmental delay",
"hypotonia",
"apnea",
"mild developmental delay",
"mild communicating hydrocephalus",
"apnea",
"hypotonia"
] | null | null | [
"Glycerol kinase deficiency",
"isolated enzyme deficiency",
"isolated enzyme defect",
"isolated glycerol kinase deficiency",
"glyceroluria"
] | [
"without evidence of adrenal insufficiency or myopathy",
"glyceroluria"
] |
duchenne:8249949 | X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis. | [
"To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family.",
"Haplotype segregation analysis.",
"Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.",
"Fourteen members of a family with XLP.",
"No... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To study 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 inheritance of the X-linked lymphoproliferative disease (XLP) locus\n <span style=\"font-size... | [
"XLP",
"XLP carrier",
"XLP",
"Duchenne muscular dystrophy"
] | [
"inheritance of the X-linked lymphoproliferative disease (XLP) locus",
"the XLP mutation was suggested to have occurred in the germ cell of the grandfather",
"paternally inherited XLP mutation",
"germ cell mosaicism",
"X-linked"
] | null | null | [
"German",
"Würzburg",
"Federal Republic of Germany",
"German"
] | null | null |
duchenne:8177833 | Duchenne muscular dystrophy associated with fetal pleural effusion and polyhydramnios. | [
"A case of fetal pleural effusion in a fetus affected with Duchenne muscular dystrophy (DMD) is reported. This case is discussed in the context of the previous observation of frequent stillbirths among male fetuses in DMD families."
] | [
"<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 fetal pleural effusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"fetal pleural effusion",
"stillbirths"
] | null | null | null | null |
duchenne:8291533 | Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. | [
"Rett syndrome is a neurodevelopmental disorder observed exclusively in females. A de novo X;3 translocation was detected in a patient (TH) with Rett syndrome. The X chromosomal breakpoint maps to Xp21.3 between the distal end of the Duchenne muscular dystrophy (DMD) gene and the DXS28 (C7) locus. To determine if t... | [
"<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 Rett syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Rett syndrome",
"neurodevelopmental disorder",
"Rett syndrome",
"Rett syndrome",
"Rett syndrome"
] | [
"de novo X;3 translocation",
"X chromosomal breakpoint maps to Xp21.3 between the distal end of the Duchenne muscular dystrophy (DMD) gene and the DXS28 (C7) locus",
"retained both DMD and DXS28",
"Xp21",
"interstitial deletions in this",
"K23-2p and K23b-1",
"X chromosomal breakpoint than DMD and DXS28... | null | null | null | null | null |
duchenne:8413368 | Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. | [
"Molecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy. Two patients with a deletion involving exon 1 were quite unique in that they developed fatal myocardial involvement in their teens, des... | [
"<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 Molecular analysis of the Duchenne muscular dystrophy (DMD) gene\n <span style=\"font-size: 0.8em; font-we... | [
"Becker muscular dystrophy (BMD)",
"dilated cardiomyopathy",
"BMD"
] | [
"deletion involving exon 1",
"deletion found",
"comprised the 3'-end of exon 1 and the greater part of intron 1",
"deletion of exon 47",
"deletion around exon 1"
] | [
"fatal myocardial involvement",
"progressive muscular atrophy",
"weakness",
"cardiac muscle"
] | null | null | null | [
"despite",
"absence of significant muscular weakness",
"not in skeletal muscle"
] |
duchenne:8307658 | Quantitative analysis of dystrophin gene amplification products using a PC-based image analysis system. | [
"A PC-based image analysis system for gel photographs of DNA gel patterns was developed. It was originally designed as a general-purpose, low-cost, yet high-performance system for wide applications in the biomedical area. In this study, we performed analysis of gel images obtained by polymerase chain reaction (PCR)... | [
"<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 PC-based image analysis system\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchenne/Becker muscular dystrophy (DMD/BMD)",
"DMD/BMD"
] | [
"DNA (exon 52 of the dystrophin gene)",
"to be deleted",
"heterozygotes"
] | null | null | null | null | null |
duchenne:8240114 | Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome. | [
"To determine whether abnormal configurations on electroretinogram were a consistent finding in patients with Xp21 deletion and to characterize the associated ophthalmologic phenotype.",
"Case series.",
"University hospitals and eye institutes.",
"Five patients with complex glycerol kinase deficiency (Duchenn... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To determine whether \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abnormal configurations on electroretinogram\n <span style=\"font-size: 0.8em; font-w... | [
"(Duchenne-type or Becker's muscular dystrophy",
"Aland Island eye disease",
"Aland Island eye disease",
"congenital stationary night blindness",
"Oregon eye disease"
] | [
"Xp21 deletion",
"chromosomal deletions at Xp21",
"Xp11",
"deletions at Xp21",
"single gene defect",
"compound effects of the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency)"
] | [
"abnormal configurations on electroretinogram",
"congenital adrenal hypoplasia",
"abnormal configurations on electroretinograms",
"ocular hypopigmentation",
"strabismus",
"myopia",
"astigmatism",
"symptomatic night blindness",
"negative configurations on scotopic electroretinograms showing a reduced... | [
"University hospitals and eye institutes",
"chloral hydrate sedation"
] | null | [
"complex glycerol kinase deficiency",
"glycerol kinase deficiency",
"complex glycerol kinase deficiency"
] | null |
duchenne:8211039 | [Quadriceps myopathy as dystrophin-associated myopathy]. | [
"Duchenne and Becker muscular dystrophy are both caused by a deletion in the dystrophin gene. In the past few years, many reports of atypical myopathies have been published where an association with a deletion within the same gene was found. We report one sporadic and one familial case of myopathy where we were abl... | [
"<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",
"atypical myopathies",
"myopathy"
] | [
"deletion in the dystrophin gene",
"deletion within the same gene",
"deletion of the dystrophin locus"
] | null | null | null | null | null |
duchenne:20058473 | Acute pericardial tamponade complicating spinal surgery in a child with Duchenne muscular dystrophy. | [
"A hitherto unrecognised problem of pericardial tamponade complicating spinal surgery in a child with Duchenne muscular dystrophy is reported in this paper."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A hitherto unrecognised problem 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 pericardial tamponade complicating spinal surgery\n <span style=\"font-... | [
"Duchenne muscular dystrophy"
] | null | [
"pericardial tamponade complicating spinal surgery"
] | null | null | null | null |
duchenne:8259881 | Occurrence of Duchenne dystrophy in Klinefelter's syndrome. | [
"A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features."
] | [
"<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",
"Duchenne muscular dystrophy"
] | [
"Klinefelter's genotype 47XXY"
] | [
"facial dysmorphism",
"unusual features"
] | null | null | null | null |
duchenne:8248906 | [Muscular dystrophy in a cat]. | [
"A case of muscular dystrophy in a 1-year-old male castrated Domestic Shorthair cat is presented. The most striking clinical features were regurgitation, a stiff gait, an increased muscle tone and exercise intolerance. Serum biochemistry panels showed a marked increase in the muscle specific enzyme creatine kinase,... | [
"<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 muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"muscular dystrophy",
"Feline muscular dystrophy",
"human Duchenne muscular dystrophy (DMD)",
"muscular dystrophy",
"feline muscular dystrophy",
"DMD"
] | [
"X-linked",
"X-linked"
] | [
"regurgitation",
"stiff gait",
"increased muscle tone",
"exercise intolerance",
"Spontaneous electrical activity of skeletal muscles in the form of \"bizarre high frequency discharges\" and \"myotonia-like repetitive discharges\"",
"marked hypertrophy of the skeletal muscles",
"and calcification",
"va... | [
"castrated Domestic Shorthair cat"
] | [
"Golden Retriever"
] | [
"marked increase in the muscle specific enzyme creatine kinase",
"moderately elevated levels of LDH, AST and ALT",
"dystrophin deficiency"
] | null |
duchenne:8246009 | Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype. | [
"In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD pr... | [
"<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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Duchenne muscular dystrophy",
"Becker dystrophy"
] | [
"intrafamilial variability in dystrophin abundance"
] | [
"severe DMD progression"
] | null | null | null | [
"No DNA deletion was detected"
] |
duchenne:8235842 | Efficacy of spinal cord monitoring in neuromuscular scoliosis. | [
"Somatosensory cortical evoked potentials (SCEPs) monitoring in neuromuscular scoliosis surgery was evaluated in a large consecutive series of spinal reconstructions to define its role in the detection and prevention of spinal cord injury; 141 procedures in 101 patients were evaluated. In 28% a reliable tracing cou... | [
"<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 Somatosensory cortical evoked potentials (SCEPs) monitoring\n <span style=\"font-size: 0.8em; font-weight:... | [
"Duchenne muscular dystrophy",
"polio"
] | null | [
"spinal cord injury",
"postoperative neurologic deficits",
"change in tracing",
"Transient changes",
"spinal cord injury"
] | [
"neuromuscular scoliosis surgery",
"spinal reconstructions",
"sublaminar wires",
"neuromuscular scoliosis surgery",
"Adjunctive techniques using epidural and MEPs"
] | null | null | [
"reliable tracing could not be obtained"
] |
duchenne:8186717 | Myoblast transplantation between monozygotic twin girl carriers of Duchenne muscular dystrophy. | [
"Monozygotic twin girls, both carriers of Duchenne muscular dystrophy, only one a severe symptomatic carrier and the other asymptomatic due to opposite lyonization, were studied. Myoblast clones were obtained from a muscle biopsy of the asymptomatic carrier. PCR amplification showed that most (94%) of these clones ... | [
"<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 Monozygotic twin girls\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | null | [
"normal dystrophin mRNA"
] | [
"significant force gain (12%-31%) in wrist extension"
] | [
"myoblasts were transplanted into the extensor carpi radialis (ECR) and in the biceps of",
"transplantation",
"myoblast injections",
"transplantation"
] | null | null | [
"no force gain for elbow flexion",
"immune problems",
"low level of spontaneous muscle regeneration"
] |
duchenne:8186681 | Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations. | [
"We have developed a rapid and sensitive method to screen the Duchenne muscular dystrophy (DMD) mRNA for translation terminating mutations by a combination of RT-PCR (Reverse Transcription and Polymerase Chain Reaction) and in vitro transcription/translation applied to white blood cell mRNA. This technique was term... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have developed a rapid and sensitive method to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n screen the Duchenne muscular dystrophy (DMD) mRNA\n <spa... | [
"DMD"
] | [
"translation terminating mutations",
"point mutation",
"spontaneous mutations",
"premature terminations"
] | null | null | null | null | null |
duchenne:8401582 | A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. | [
"About two thirds of Duchenne muscular dystrophy (DMD) patients have either gene deletions or duplications. The other DMD cases are most likely the result of point mutations that cannot be easily identified by current strategies. Utilizing a heteroduplex technique and direct sequencing of amplified products, we scr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">About two thirds 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: bold;... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | [
"gene deletions or duplications",
"point mutations",
"nondeletion/duplication DMD",
"point mutations",
"dystrophin missense mutation",
"mutation results in the substitution of an evolutionarily conserved leucine to arginine in the actin-binding domain"
] | null | null | null | null | null |
duchenne:8349821 | Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. | [
"Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal glycoproteins including dystroglycan, which provides a linkage to the extracellular matrix component, laminin. In DMD, the absence of dystrophin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Dystrophin, the protein product 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 Duchenne muscular dystrophy (DMD) gene\n <span style=\"font-size: 0... | [
"Duchenne muscular dystrophy (DMD) gene",
"DMD",
"DMD",
"DMD",
"severe muscular dystrophy"
] | [
"(cysteine-rich and carboxyl-terminal) of dystrophin"
] | [
"disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix"
] | null | null | [
"absence of dystrophin",
"drastic reduction in all of the dystrophin-associated proteins"
] | null |
duchenne:8229051 | Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity. | [
"Using five monoclonal antibodies against different parts of the dystrophin molecule, we have studied the dystrophin composition of 17 dystrophin-positive fibres in a muscle biopsy from a boy with Xp21 muscular dystrophy of Duchenne-type severity. The fibres showed five distinct, reproducible, immunoreactive dystro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Using five monoclonal antibodies against different parts of the dystrophin molecule, we have studied the dystrophin composition of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-ra... | [
"Xp21 muscular dystrophy of Duchenne-type severity"
] | [
"somatic loss of certain exons",
"different patterns of missing exons leading to restoration of the reading frame in various ways in the original germline frame-shifting deletion of exons 35-43"
] | null | null | null | [
"N-terminal and the C-terminal"
] | [
"negative for different antibodies"
] |
duchenne:8250158 | An unusual case of Duchenne muscular dystrophy. | [
"A 10-year-old boy with Duchenne muscular dystrophy (DMD), with quite unusual clinical data, is presented. He was unable to walk until age 6, walked only for 9 months and then became wheel-chair bound. No dystrophin was present on muscle biopsy sections and a large deletion was found in the dystrophin gene. The del... | [
"<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)",
"DMD"
] | [
"large deletion was found in the dystrophin gene",
"deletion encompassed the central high frequency deletion region of the gene"
] | [
"Early developmental milestones"
] | [
"wheel-chair bound"
] | null | null | [
"unable to walk until age 6",
"walked only for 9 months",
"No dystrophin was present on muscle biopsy sections"
] |
duchenne:8357005 | Mental retardation locus in Xp21 chromosome microdeletion. | [
"Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The clinical phenotypes we studied in this chromosome region include: Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD... | [
"<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 Xp21 microdeletion syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Xp21 microdeletion syndrome",
"Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD) -retinitis pigmentosa (RP)",
"AH, GKD, and DMD loci deleted",
"Xp21 deletion syndrome",
"DMD",
"GKD",
"AH",
"mental retardation"
] | [
"variable size Xp21 deletions that usually include the glycerol kinase locus",
"submicroscopic deletion was associated with DMD",
"an X chromosome with a cytogenetically deleted Xp21 distal to the OTC and RP genes segregated in the affected male and retarded female carriers",
"Xp21 deletion"
] | [
"developmentally delayed",
"mentally retarded",
"retardation",
"mental retardation"
] | null | null | null | [
"normal karyotypes",
"otherwise asymptomatic female"
] |
duchenne:8488877 | In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus "suddenly at risk". | [
"DNA methods to diagnose Duchenne muscular dystrophy (DMD) are not always informative, and we have published previously the first instance of in utero muscle biopsy to assess dystrophin in a male fetus having the same \"X\" as an affected sib. We present here a female fetus with a de novo X,1 translocation with bre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">DNA methods to diagnose \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: b... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"de novo X,1 translocation with breakpoint at Xp21",
"translocation breakpoint",
"de novo Xp21 translocation"
] | null | [
"20 weeks of gestation",
"pregnancy"
] | null | [
"specimen positive for dystrophin immunofluorescence"
] | [
"likely normal fetus",
"normal serum creatine kinase levels",
"unaffected with DMD"
] |
duchenne:8387534 | Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. | [
"We report here the second evidence of retrotransposition of L1, which was found inserted into the dystrophin gene of a patient, causing Duchenne muscular dystrophy (DMD). When the PCR was used to amplify a region of the dystrophin gene encompassing exon 44 from genomic DNA of two Japanese brothers with DMD, it was... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here the second evidence 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 retrotransposition of L1\n <span style=\"font-size: 0.8em; font-weig... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"inserted into the dystrophin gene",
"approximately 600 bp larger than expected",
"the insertion was present zero to two bases upstream from the 3' end of exon 44 and that two to four bases of the exon sequence were deleted from the insertion site",
"The insertion sequence was found to be composed of 606-608 ... | null | null | [
"Japanese"
] | null | null |
duchenne:8375105 | Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. | [
"In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal gran... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this study we describe 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 three-generation family in which two siblings were affected by Duchenne muscular ... | null | [
"hidden germinal mosaicism"
] | null | [
"accurate genetic counselling",
"genetic counselling"
] | null | null | null |
duchenne:8214349 | A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein. | [
"A Duchenne muscular dystrophy case showed truncated dystrophin (320 kDa) with an isoelectric point slightly shifted towards a more alkaline pH. From the polymerase chain reaction and immunochemical analysis data, the expressed dystrophin protein was predicted to lack the portion comprising the tail of the rod-like... | [
"<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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Duchenne muscular dystrophy"
] | [
"lack the portion comprising the tail of the rod-like domain, the cysteine-rich domain, and the head of the C-terminal domain",
"cysteine-rich domain in the dystrophin protein"
] | null | null | null | [
"truncated dystrophin (320 kDa)"
] | null |
duchenne:8327067 | Dystrophin expression in Duchenne patients with "in-frame" gene deletions. | [
"Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystrophin in muscle biopsies showed variable dystrophin synthesis in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Details of disease progression and dystrophin expression are presented for three 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 Duchenne muscu... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"Becker muscular dystrophy",
"DMD"
] | [
"intragenic deletions which maintained the open reading frame for mRNA translation",
"relatively small deletions (missing exons 10-13 and 52-55)",
"larger deletion which removed exons 3-25",
"in-frame deletion of exons in the amino terminal domain"
] | null | null | null | [
"variable dystrophin synthesis",
"low levels of dystrophin which were comparable to those found",
"dystrophin in the high abundance"
] | null |
duchenne:8103723 | [Manifesting carriers of Duchenne muscular dystrophy over two generations]. | [
"We report a family with manifesting DMD carriers over two generations. Sixty years old female (case 1) suffered from slowly progressive weakness since her thirties. Her youngest daughter aged 30 (case 2) had cramping calf muscle pain since her 5 years old. Progressive muscle weakness developed and lost her ambulat... | [
"<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 family with manifesting DMD carriers over two generations\n <span style=\"font-size: 0.8em; fo... | null | [
"deletion of exon 19-21 in dystrophin gene",
"X-inactivation process was not random",
"paternal X was preferentially inactivated by maternal mutant X."
] | [
"slowly progressive weakness",
"cramping calf muscle pain",
"Progressive muscle weakness",
"lost her ambulation"
] | null | null | null | null |
duchenne:8481629 | Heterozygotic gene expression in endomyocardial biopsies: a new diagnostic tool confirms the Duchenne carrier status. | [
"Identification of the defective gene and the absent gene product dystrophin can substantiate the clinical evidence for manifesting X-linked Duchenne type muscular dystrophy (DMD). It is not always possible, however, to rule out definitely a clinically asymptomatic carrier status in question, since even in the prov... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Identification 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 defective gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne type muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | [
"defective gene",
"X-linked",
"heterozygote carrier status"
] | null | null | null | [
"absent gene product dystrophin"
] | [
"clinically asymptomatic",
"DNA analysis is often inconclusive",
"basically normal membrane dystrophin",
"Dystrophin immunohistochemistry and western blot of her skeletal muscle biopsy were inconclusive",
"failed to locate directly the X-chromosomal defect",
"controls were uniformely positive"
] |
duchenne:8456832 | In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy. | [
"A novel combination of conventional and molecular cytogenetic techniques was used to investigate the expression of an X-linked recessive disorder in one of monozygotic (MZ) twin females. These twins carry a deletion, approximately 300 kb in length, in one of their X chromosomes within the dystrophin gene, which is... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A novel combination 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 conventional and molecular cytogenetic techniques\n <span style=\"font-size: 0.8em;... | null | [
"X-linked recessive disorder",
"deletion, approximately 300 kb in length, in one of their X chromosomes within the dystrophin gene, which is responsible for Duchenne muscular dystrophy (DMD)",
"X chromosome carrying the gene deletion",
"X chromosomes",
"predominant inactivation of the normal X chromosome",
... | null | null | null | null | null |
duchenne:8358237 | Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients. | [
"Nerve-muscle co-cultures from five Duchenne muscular dystrophy (DMD) patients and one Becker (BMD) patient, were studied by immunocytochemistry with antibodies against different portions of dystrophin. Four DMD patients had a deletion in the dystrophin gene. Some dystrophin-positive myotubes were detected in a few... | [
"<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 Nerve-muscle co-cultures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Duchenne muscular dystrophy (DMD)",
"Becker (BMD)",
"DMD",
"DMD",
"DMD",
"BMD"
] | [
"deletion in the dystrophin gene",
"\"frame-restoring\" mutation"
] | null | null | null | [
"dystrophin-related protein\"",
"dystrophin immature isoform"
] | [
"contamination from rat spinal cord during innervation"
] |
duchenne:8341171 | Detection of gene deletions by PCR analysis in a Malaysian patient with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD), the commonest X-linked disorder, is a progressive, eventually fatal disease. With the advent of molecular genetics, the Duchenne gene and its protein product, dystrophin, have been characterised. Molecular diagnosis of DMD, identification of carriers and antenatal diagnosis are n... | [
"<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)",
"DMD",
"DMD"
] | [
"X-linked disorder",
"Duchenne gene"
] | null | [
"antenatal diagnosis"
] | [
"Malaysian"
] | null | null |
duchenne:8490621 | Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? | [
"The severe Duchenne muscular dystrophy (DMD) and the more benign Becker type (BMD) are allelic conditions, controlled by a defective gene at Xp21, caused by the absence (DMD) or a defect in quantity or quality (BMD) of the protein dystrophin. It has been suggested that the C-terminus domain of dystrophin is fundam... | [
"<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 severe Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"severe Duchenne muscular dystrophy (DMD)",
"benign Becker type (BMD)",
"DMD",
"BMD",
"DMD",
"Becker"
] | [
"defective gene at Xp21",
"large internal deletions but in addition to the C-terminus, the region encompassing both the N-terminus and the proximal region of the rod domain cannot be absent"
] | [
"severe clinical course",
"dystrophin band of reduced molecular weight (corresponding to their DNA deletions"
] | null | null | [
"absence",
"defect in quantity or quality",
"of the protein dystrophin",
"positive dystrophin immunofluorescence",
"C-terminal antibody",
"maintained the C-terminus"
] | null |
duchenne:8452597 | Diagnosis of dystrophinopathies: review for the clinician. | [
"The dystrophinopathies are muscle disorders due to an abnormality of an Xp21-linked gene which produces the dystrophin protein. The most common of these disorders are the Duchenne and Becker muscular dystrophies. Modern molecular genetic techniques enable reliable diagnosis and prognosis in many patients, but ther... | [
"<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 dystrophinopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"dystrophinopathies",
"muscle disorders",
"Duchenne and Becker muscular dystrophies",
"dystrophinopathies",
"Duchenne or Becker muscular dystrophy",
"dystrophinopathies"
] | [
"abnormality of an Xp21-linked gene which produces the dystrophin protein"
] | null | null | null | [
"asymptomatic elevation of CK"
] | null |
duchenne:8423459 | The use of monoclonal antibodies in diagnostic tests for Becker and Duchenne muscular dystrophy. | [
"Monoclonal antibodies recognizing different epitopes of dystrophin have now been widely applied in diagnostic tests for Duchenne and Becker muscular dystrophy (BMD). The preservation of the C-terminus in BMD patients necessitates the routine use of one antibody raised against this region. Additional antibodies aga... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Monoclonal antibodies recognizing different epitopes of dystrophin have now been widely applied in diagnostic tests for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35e... | [
"Duchenne",
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD"
] | [
"deletion-prone regions of dystrophin"
] | null | null | null | null | null |
duchenne:8364587 | Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis. | [
"Utilizing a heteroduplex method, we screened the dystrophin exon 43-45 region for point mutations, including small deletions and insertions. The method depends upon the formation of a heteroduplex between wild-type and mutant DNA PCR products. DNA specimens from one hundred and four DMD patients without detected d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Utilizing 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 heteroduplex method\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"DMD"
] | [
"point mutations",
"small deletions and insertions",
"exon 44 nonsense mutation in two DMD brothers",
"common intron 44 polymorphism",
"the exon 44-45 region is a hotspot for deletion breakpoints",
"point mutations"
] | [
"altered mobility heteroduplex bands"
] | null | null | null | [
"without detected deletions or duplications"
] |
duchenne:8329890 | Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. | [
"We have analysed the results of clinical assessment, X-inactivation status, deletion screening and dystrophin analysis in eight manifesting carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Only two had a prior family history of X-linked muscle disease, all had normal karyotypes and none were twins... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have analysed the results of clinical assessment, \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 status\n <span style=\"font-size: 0.8e... | [
"Duchenne and Becker muscular dystrophy (DMD and BMD)",
"DMD",
"BMD"
] | null | [
"a DMD-like severity to a very mild BMD-like course",
"restricted to learning difficulties"
] | null | null | null | [
"normal karyotypes",
"X-inactivation appeared normal in lymphocytes and muscle"
] |
duchenne:8095479 | Diagnosis of DMD carrier status in a family with no known affected males. | [
"A 30-year-old woman and her two-year-old daughter were found by chance to have moderately raised serum creatine kinase (CK) levels. Since the mother was pregnant, the authors investigated the possibility that the two females were carriers of the common Duchenne muscular dystrophy (DMD) gene. No immunohistochemical... | [
"<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 30-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"DMD"
] | [
"carriers of the common Duchenne muscular dystrophy (DMD) gene",
"carrier status for DMD"
] | null | null | null | [
"moderately raised serum creatine kinase (CK) levels",
"raised CK levels"
] | [
"No immunohistochemical abnormality was detected in the mother"
] |
duchenne:1481858 | Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning. | [
"We report the occurrence of Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl who was one of identical twins. Molecular studies showed nonrandom X-inactivation in both her fibroblasts and lymphocytes, while her normal twin showed equal usage of both X chromosomes. In view of previous r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 Hunter disease (mucopolysaccharidosis type II)\n <span style=\"font-size: 0.8e... | [
"Hunter disease (mucopolysaccharidosis type II)"
] | [
"nonrandom X-inactivation in both her fibroblasts and lymphocytes",
"nonrandom X-inactivation"
] | null | null | null | null | [
"karyotypically normal"
] |
duchenne:1476571 | Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. | [
"Allele-specific molecular diagnosis of Duchenne and Becker muscular dystrophies (DMD and BMD) has been largely dependent upon muscle biopsy for dystrophin protein assay. We performed lymphocyte DNA mutation analysis by polymerase chain reaction on 14 boys presenting with a clinical picture compatible with DMD or B... | [
"<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 Allele-specific molecular diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne and Becker muscular dystrophies (DMD and BMD)",
"DMD",
"BMD",
"DMD/BMD",
"DMD",
"BMD",
"DMD/BMD"
] | [
"deletion of the dystrophin gene"
] | null | null | null | null | null |
duchenne:1513469 | Premature chain termination mutation causing Duchenne muscular dystrophy. | [
"We identified a premature chain termination mutation in two brothers with Duchenne muscular dystrophy and correlated the mutation in one of the brothers with immunologic detection of dystrophin in skeletal muscle. Southern and polymerase chain reaction (PCR) studies of genomic DNA from the affected boys showed no ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We identified 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 premature chain termination mutation\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Duchenne muscular dystrophy"
] | [
"premature chain termination mutation",
"absence of a HindIII Southern fragment containing the proximal portion of exon 48",
"point mutation that creates a new HindIII restriction site in that exon",
"cytosine-to-thymine transition at nucleotide 7163 of dystrophin that converts a glutamine codon (CAA) to an o... | null | null | null | [
"immunologic detection of dystrophin in skeletal muscle",
"anti-dystrophin antibodies",
"anti-dystrophin antibodies against the carboxy terminal"
] | [
"no major gene rearrangements"
] |
duchenne:1472706 | A case of atypical Duchenne type muscular dystrophy with fragile X. | [
"The patient was a 9-year-old boy. He began to walk at the age 1 year and 8 months and began to speak at the age of 2 years, suggesting retarded mental and motor development. A diagnosis of DMD was made when he was 7 years old. On admission, the patient exhibited a peculiar thin and long face, large auricles, narro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient was 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-r... | [
"DMD",
"DMD",
"fragile X syndrome",
"DMD",
"fragile X syndrome"
] | [
"fragile X at Xq27 at a frequency of 20%"
] | [
"retarded mental and motor development",
"peculiar thin and long face",
"large auricles",
"narrow palate",
"malalignment of the teeth",
"epicanthus",
"saddle nose",
"simian lines",
"symptoms consistent with DMD"
] | null | null | null | null |
duchenne:1427785 | Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. | [
"Prenatal diagnosis and carrier detection for Duchenne muscular dystrophy (DMD) usually can be performed using DNA analysis. When recombination occurs within the DMD gene, or DNA analysis is uninformative, or in pedigrees where it is unclear whether or not the consultand is a carrier, direct examination of muscle b... | [
"<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 (DMD)"
] | [
"recombination occurs within the DMD gene"
] | [
"absence of dystrophin and affected status",
"skeletal and cardiac muscle"
] | [
"delivery of an unaffected male fetus",
"pregnancy termination"
] | null | null | [
"DNA analysis is uninformative",
"presence of normal dystrophin",
"dystrophin was not found in fetal muscle tissue"
] |
duchenne:1421917 | Anesthesia-induced rhabdomyolysis in infants with unsuspected Duchenne dystrophy. | [
"Anesthesia-induced rhabdomyolysis in infancy may represent an unsuspected Duchenne dystrophy. In order to establish the diagnosis of this genetic disease more definitively, a dystrophin test is a requisite following the conventional creatine kinase test and light and electron microscopies of the 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 Anesthesia-induced rhabdomyolysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Anesthesia-induced rhabdomyolysis",
"Duchenne dystrophy",
"genetic disease"
] | null | null | null | null | null | null |
duchenne:1383546 | Identification of a new DMD gene deletion by ectopic transcript analysis. | [
"The detailed genetic analysis of the Duchenne/Becker muscular dystrophy gene is hindered by the large number of exons involved and their separation by huge introns. These problems can be overcome by the analysis of mRNA rather than genomic DNA and ectopic transcripts derived from peripheral blood lymphocytes provi... | [
"<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 detailed genetic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Duchenne/Becker muscular dystrophy gene"
] | [
"separation by huge introns",
"hitherto undescribed single exon deletion"
] | null | null | null | null | null |
duchenne:1644931 | An intact cysteine-rich domain is required for dystrophin function. | [
"The carboxyl terminus of dystrophin is encoded by a highly conserved, alternatively spliced region of the gene. The few rare mutations reported in this region are of interest in unraveling the function of the dystrophin molecule. An unusual case of infantile onset Duchenne muscular dystrophy (DMD) with an internal... | [
"<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 carboxyl terminus of dystrophin is encoded by a highly conserved, alternatively spliced region of the gen... | [
"infantile onset Duchenne muscular dystrophy (DMD)"
] | [
"carboxyl terminus of dystrophin is encoded by a highly conserved, alternatively spliced region of the gene",
"internal 3' genomic deletion",
"intragenic 1824-bp deletion precisely excising the cysteine rich and alternatively spliced COOH-terminal domains of dystrophin",
"unaltered final 2.7 kb of the patient... | null | null | null | null | null |
duchenne:1518025 | Investigation of a female manifesting Becker muscular dystrophy. | [
"Females manifesting Becker muscular dystrophy (BMD) are even more rarely observed than for the allelic condition Duchenne muscular dystrophy. The male proband has typical BMD with greatly raised CK activity and a myopathic muscle biopsy. His mother experienced walking difficulties from 35 years of age and has a 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 Females\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Becker muscular dystrophy (BMD)",
"Duchenne muscular dystrophy",
"BMD",
"myopathy",
"BMD"
] | [
"Non-random X inactivation at locus DXS255, was observed in DNA isolated from peripheral lymphocytes of the mother",
"structural alteration in the dystrophin gene",
"unusual mutation"
] | [
"myopathic muscle biopsy",
"walking difficulties",
"marked calf hypertrophy",
"myopathic muscle biopsy"
] | null | null | [
"greatly raised CK activity",
"raised CK",
"protein of normal size but of reduced abundance in both"
] | null |
duchenne:1509647 | [Muscular dystrophy as a risk factor in anesthesia]. | [
"Three cases of muscular dystrophy are reported on (8 years, 4 months, 10 months) in which serious conditions arose under anaesthetic (bradycardia, asystolia, hyperkalemia, rising CPK). In the first two cases there was no way of avoiding a fatal outcome, but in the third case the child survived with no permanent da... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three cases 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 muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"muscular dystrophy",
"acute rhabdomyolysis",
"malign hyperthermia",
"muscular dystrophy",
"muscular dystrophy of the Becker type",
"benign",
"progressive muscular dystrophy of the Duchenne type"
] | null | [
"serious conditions",
"bradycardia",
"asystolia",
"no permanent damage",
"clinical symptoms are very"
] | [
"anaesthetic",
"depolarising relaxants"
] | null | [
"hyperkalemia",
"rising CPK)",
"hyperkalemia"
] | [
"no way of avoiding a fatal outcome",
"no indications of malign hyperthermia",
"mistaken medical treatment",
"no evidence to justify such an assumption"
] |
duchenne:1415326 | X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers. | [
"A 4-year-old girl was identified with high creatine kinase (CK) values, and mild muscle weakness in a limb-girdle distribution. Results of dystrophin analysis of the muscle biopsy were consistent with a manifesting heterozygote for Duchenne muscular dystrophy. In peripheral lymphocytes she had a t(X;12) (p21.2;q24... | [
"<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 4-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | null | [
"manifesting heterozygote for Duchenne muscular dystrophy",
"t(X;12) (p21.2;q24.33)",
"inactivation of the normal X chromosome in 99.4% of cells"
] | [
"mild muscle weakness in a limb-girdle distribution"
] | null | null | [
"high creatine kinase (CK) values",
"Dystrophin content of muscle by immunoblot was approximately 5% of normal",
"percent of normal X inactivation",
"dystrophin-negative cells",
"compensatory protection of dystrophin"
] | null |
duchenne:1353862 | Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy. | [
"Carrier testing in a Duchenne muscular dystrophy (DMD) family resulted in the identification of a case of germline mosaicism. Using dystrophin cDNA probes, this phenomenon was ascertained by the demonstration of a deletion junction fragment present in the DNA of the affected patient and one sister but absent in 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 Carrier testing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"germline mosaicism",
"germline mosaicism"
] | null | null | null | null | null |
duchenne:1615933 | Optimization of DNA extraction from formalin-fixed tissue and its clinical application in Duchenne muscular dystrophy. | [
"The authors report a case of Duchenne muscular dystrophy in which a deletion was determined by multiplex polymerase chain reaction using postmortem tissue from a proband who died in 1985, 2 years before the cloning of the dystrophin gene. Several extraction methods were analyzed to determine optimal conditions for... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors 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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Duchenne muscular dystrophy"
] | null | [
"died"
] | [
"tissue lysis",
"simple salting-out procedure for purification of DNA",
"Lysis at 37 degrees C for less than 24 hours",
"Lysis at 54 degrees C",
"rapid salting-out procedure for organic extractions"
] | null | null | [
"unsuitable for polymerase chain reaction",
"was unsuccessful"
] |
duchenne:1388424 | Phenotypic Duchenne muscular dystrophy with C-terminal domain. | [
"We report a patient with X-linked muscular dystrophy who had rapidly progressive muscle weakness and became wheelchair-bound at age 10 years. Clinically, he was diagnosed as having Duchenne muscular dystrophy; however, he was diagnosed as having Becker muscular dystrophy by dystrophin tests using a C-terminal mono... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 X-linked\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"muscular dystrophy",
"Duchenne muscular dystrophy",
"Becker muscular dystrophy"
] | [
"X-linked",
"deletion of exons 3-19",
"deletion of the N-terminal domain of dystrophin"
] | [
"rapidly progressive muscle weakness"
] | [
"wheelchair-bound"
] | null | null | [
"No immunolabelling was observed with a monoclonal antibody against the N-terminal domain"
] |
duchenne:1570430 | [The two brothers' case of dilated cardiomyopathy with benign Duchenne type of progressive muscular dystrophy (Becker's type)]. | [
"The presence of myocardial involvement is rare in benign Duchenne type of progressive muscular dystrophy (Becker's muscular dystrophy). We describe two brothers suffering from Becker's muscular dystrophy, both of whom presented with dilated cardiomyopathy. The first case is a 39-year-old male who had suffered from... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The presence 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 myocardial involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"benign Duchenne type of progressive muscular dystrophy (Becker's muscular dystrophy)",
"Becker's muscular dystrophy",
"dilated cardiomyopathy",
"heart disease",
"Becker's muscular dystrophy",
"dilated cardiomyopathy",
"dilated cardiomyopathy"
] | null | [
"myocardial involvement",
"gait disturbance",
"pseudohypertrophy of the calves",
"leg weakness",
"discomfort of the anterior chest",
"Pseudohypertrophy of the calves"
] | null | null | null | null |
duchenne:1347968 | Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. | [
"Reciprocal chromosome translocations are common de novo rearrangements that occur randomly throughout the human genome. To learn about causative mechanisms, we have cloned and sequenced the breakpoints of a cytologically balanced constitutional reciprocal translocation, t(X;4)(p21.2;q31.22), present in a girl with... | [
"<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 Reciprocal chromosome translocations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"Reciprocal chromosome translocations",
"de novo rearrangements",
"cytologically balanced constitutional reciprocal translocation, t(X;4)(p21.2;q31.22)",
"translocation disrupts the DMD gene in Xp21 within the 18-kb intron 16",
"loss of approximately 5 kb in the formation of the derivative X chromosome, wit... | null | null | null | null | null |
duchenne:1549596 | Point mutations in the dystrophin gene. | [
"Defining the range of mutations in genes that cause human disease is essential to determine the mechanisms of genetic variation and the function of gene domains and to perform precise carrier and prenatal diagnosis. The mutations in one-third of Duchenne muscular dystrophy patients remain unknown as they do not in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Defining the range of mutations in genes that cause human disease is essential to determine the mechanisms of genetic variation and the function of gene domains and to perform precise carrier and prenatal diagnosis. The mutations in one-third of \n... | [
"Duchenne muscular dystrophy"
] | [
"gross rearrangements of the dystrophin gene",
"sequence change in",
"premature translational termination",
"frameshifting deletions",
"of dystrophin"
] | null | null | null | null | null |
duchenne:1628461 | [Intramuscular degeneration process in Duchenne muscular dystrophy--investigation by longitudinal MR imaging of the skeletal muscles]. | [
"Intramuscular degeneration process of Duchenne dystrophy skeletal muscles was investigated by longitudinal skeletal muscle imaging with high-field-strength NMR-CT of 1.5 Tesla. Thigh muscles in 10 cases ranging in age from 4 to 19 years were examined by T1-weighed longitudinal images (TR = 215-505 ms, TE = 19-20 m... | [
"<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 Intramuscular degeneration process\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Duchenne dystrophy skeletal muscles"
] | null | [
"Skeletal muscle degeneration",
"high signal intensity area reflecting its high fat contents",
"high signal intensity areas had a longitudinally streaky appearance in parallel direction with myofibers",
"toward myotendon junction than muscle bellies",
"Skeletal muscle degeneration"
] | null | null | null | null |
duchenne:1539591 | A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane. | [
"A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43. This deletion introduces an early termination codon, and a 225-kD protein... | [
"<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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Duchenne muscular dystrophy"
] | [
"frameshift deletion of exons 42 and 43",
"deletion introduces an early termination codon",
"N-terminal truncated dystrophin fragment encoded by exon 1-41"
] | null | null | null | [
"anti-dystrophin monoclonal antibodies",
"225-kD",
"N-terminal antibodies"
] | [
"near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C"
] |
duchenne:1564523 | A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients: immunological evidence. | [
"Muscles from Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) patients were analysed using monoclonal and polyclonal antibodies raised against different regions of the dystrophin molecule. On blot, two of the antibodies detected a protein of Mr 400K in muscle extracts from all patients, includ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Muscles from \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; font-weight: bold; line-hei... | [
"Becker muscular dystrophy (BMD)",
"Duchenne muscular dystrophy (DMD)",
"BMD"
] | [
"deletion which spanned more than 40% of the central rod domain of the Xp21 encoded dystrophin",
"from the carboxy terminal and the central rod",
"gene than the dystrophin gene"
] | null | null | null | null | null |
duchenne:1552307 | Dystrophin deficiency in a case of congenital myopathy. | [
"We studied a 5-year-old boy who had the \"floppy infant syndrome\" and a dystrophic pattern on muscle biopsy. According to the clinical presentation and the histopathological findings the diagnosis of congenital muscular dystrophy with associated intellectual retardation was made. Immunohistochemical and immunoblo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied 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... | [
"congenital muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"deletion at the 5' end of the dystrophin gene"
] | [
"floppy infant syndrome\"",
"dystrophic pattern",
"associated intellectual retardation"
] | null | null | null | null |
duchenne:1549142 | Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. | [
"The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Apart from \"classical\" clinical presentations, asymptomatic or only mildly affected individuals with deletions in the dys... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; ... | [
"Duchenne (DMD)",
"Becker (BMD) muscular dystrophy",
"atypical BMD",
"myopathies"
] | [
"deletions in the dystrophin gene"
] | [
"asymptomatic"
] | null | null | null | [
"initially classified as metabolic myopathies"
] |
duchenne:1537352 | Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) and the allelic milder form of Becker muscular dystrophy (BMD) are caused by mutations of the dystrophin gene on the short arm of the X chromosome. One third of affected individuals are expected to result from de novo mutations. Genetic counselling of families with sporadic cases ... | [
"<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)",
"allelic milder form of Becker muscular dystrophy (BMD)",
"BMD",
"DMD",
"DMD"
] | [
"mutations of the dystrophin gene on the short arm of the X chromosome",
"de novo mutations",
"potential meiotic origin of the mutation in the mother",
"germline mosaicism",
"combined somatic and germline mosaicism for a deletion of the dystrophin gene",
"mitotic origin of this deletion",
"somatic mosai... | [
"mild overall pathology"
] | [
"genetic counselling"
] | null | [
"focal dystrophin deficiency"
] | [
"herself clinically healthy",
"normal creatine kinase levels",
"no evidence of somatic mosaicism in their lymphocytes"
] |
duchenne:1731332 | Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. | [
"Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscu... | [
"<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 Abnormalities of dystrophin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne",
"Becker muscular dystrophy",
"Fukuyama congenital muscular dystrophy (FCMD)",
"autosomal recessive FCMD",
"FCMD",
"Duchenne muscular dystrophy",
"FCMD"
] | [
"dystrophin and the FCMD gene product",
"heterozygous for the FCMD mutation",
"autosomal recessive disorders",
"rare autosomal recessive disorders",
"mutations in proteins that interact with X chromosome-linked gene products"
] | null | null | [
"Japanese"
] | [
"Abnormalities of dystrophin",
"dystrophin deficiency",
"abnormal dystrophin",
"abnormal dystrophin"
] | null |
duchenne:1732762 | Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2. | [
"Two 2-year-old males underwent muscle biopsy that established the histopathologic diagnosis of Becker dystrophy in one, and Duchenne dystrophy in the other. Concomitant contracture testing with caffeine or halothane was normal for malignant hyperthermia (MH). The results suggest that acute hypermetabolism or acute... | [
"<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 2-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Becker dystrophy",
"Duchenne dystrophy",
"autosomal dominant MH"
] | [
"X-linked myopathy"
] | [
"acute hypermetabolism",
"acute rhabdomyolysis",
"muscle deterioration"
] | [
"anesthesia"
] | null | null | [
"Concomitant contracture testing with caffeine or halothane was normal for malignant hyperthermia (MH)"
] |
duchenne:1483040 | Malignant hyperthermia and neuromuscular disease. | [
"Malignant hyperthermia (MH) is a rare clinical syndrome characterized by hypermetabolism and triggered by specific anesthetic agents. The mechanism of this abnormal reaction is due to uncontrolled calcium flux in the skeletal muscles resulting in a variable clinical syndrome of muscle rigidity, respiratory and met... | [
"<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 Malignant hyperthermia (MH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Malignant hyperthermia (MH)",
"MH",
"myopathies",
"MH",
"neuromuscular diseases",
"stress syndromes",
"central core disease (CCD)",
"King-Denborough syndrome",
"Duchenne muscular dystrophy",
"myotonia congenita",
"sudden infant death syndrome",
"limb girdle dystrophy",
"neuroleptic malignan... | [
"genetic defect",
"mutation of the gene for the ryanodine receptor, a large protein which comprises the calcium channel in the sarcoplasmic reticulum",
"Inheritance",
"to be autosomal dominant",
"variable penetrance",
"proximity of the CCD gene to the ryanodine receptor gene on chromosome 19"
] | [
"hypermetabolism",
"muscle rigidity",
"respiratory and metabolic acidosis",
"elevation of temperature",
"muscle related problems",
"acute rhabdomyolysis"
] | [
"specific anesthetic agents"
] | null | [
"idiopathic persistently elevated creatine kinase"
] | [
"rarely have physical or laboratory signs of muscle disease"
] |
duchenne:1422198 | A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation. | [
"A total of 161 unrelated Duchenne (DMD) and Becker muscular dystrophy (BMD) patients were screened for deletions in the brain promoter region of the dystrophin gene. Southern blot analysis using a probe for the brain promoter detected a deletion in this region in only one of the DMD families, in a patient with nor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A total of 161 unrelated \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 (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Duchenne (DMD)",
"Becker muscular dystrophy (BMD)",
"DMD",
"DMD"
] | [
"deletions in the brain promoter region of the dystrophin gene",
"deletion in this",
"deletion also included the promoter of the muscle-type dystrophin and the exons encoding the actin-binding and part of the spectrin-like domains",
"deletions in the brain promoter region"
] | null | null | null | null | [
"normal intelligence",
"normal intelligence"
] |
duchenne:1370218 | A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining: a case report. | [
"We report a case of symptomatic carrier of Duchenne muscular dystrophy (DMD) in a 14-year-old girl with no prior family history of DMD. She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of skeletal muscle ... | [
"<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 symptomatic carrier of Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.... | [
"symptomatic carrier of Duchenne muscular dystrophy (DMD)",
"DMD",
"Cardiomyopathy",
"DMD"
] | [
"dystrophin gene mutation"
] | [
"chest pain",
"enlarged calf muscles",
"decreased left ventricular function"
] | null | null | [
"elevated serum creatine kinase (CK)"
] | [
"no prior family history of DMD",
"no evidence of a deletion within the DMD gene in the patient or in her mother"
] |
duchenne:1306582 | [Surgical treatment of spinal deformities in Duchenne muscular dystrophy]. | [
"Forty seven Duchenne Muscular Dystrophy patients, operated on for spinal deformity with segmental spinal instrumentation according to Luque's technique, are reviewed with a mean post-operative follow up of 4 years 4 months. The study of the results obviously showed the interest of Luque Galveston technique for the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Forty seven \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: ... | [
"Duchenne Muscular Dystrophy",
"spinal deformity"
] | null | [
"severe curves",
"pelvic obliquity",
"satisfying spontaneous fusion"
] | [
"operated on",
"segmental spinal instrumentation according to Luque's technique",
"Luque Galveston technique",
"Dove's rectangle",
"early instrumentation",
"total spinal arthrodesis",
"instrumentation"
] | null | null | null |
duchenne:1766451 | Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results. | [
"An autosomal recessive disorder which mimics Duchenne muscular dystrophy has long been suspected as a cause of muscular dystrophy in karyotypically normal girls and in both boys and girls with consanguineous parents. Analysis of dystrophin now allows confirmation of the existence of this disorder. We report the re... | [
"<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 autosomal recessive disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Duchenne muscular dystrophy",
"muscular dystrophy"
] | [
"autosomal recessive disorder"
] | null | null | null | null | [
"karyotypically normal",
"no demonstrable abnormality in dystrophin or its gene"
] |
duchenne:1772818 | Continuous subarachnoid analgesia in two adolescents with severe scoliosis and impaired pulmonary function. | [
"We report postoperative pain management of two adolescents after upper abdominal procedures, one with Hurler-Scheie syndrome and a second with Duchenne muscular dystrophy, and both had progressive spinal scoliosis with poor pulmonary function. A combined technique of subarachnoid and general anesthesia was used du... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n postoperative pain management\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Hurler-Scheie syndrome",
"Duchenne muscular dystrophy"
] | null | [
"progressive spinal scoliosis",
"poor pulmonary function",
"restored preoperative arterial oxygenation within 48 hours after the operation"
] | [
"postoperative pain management",
"upper abdominal procedures",
"combined technique of subarachnoid and general anesthesia",
"surgery",
"Postoperative administration of small intermittent doses of subarachnoid morphine",
"profound analgesia",
"expedited postoperative recovery"
] | null | null | [
"eliminated the need for systemic opioids"
] |
duchenne:1802475 | [Exercise-induced myalgia and high CKemia with a deletion in the dystrophin gene]. | [
"A 30-year-old man showed exercise-induced myalgia, calf muscle hypertrophy and high serum creatine kinase level, without muscular weakness. The symptoms began in childhood and did not progress. Electromyographic findings were consistent with myopathy, and the muscle histology showed nonspecific myopathic changes w... | [
"<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 30-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"myopathy",
"Duchenne",
"Becker muscular dystrophy"
] | [
"deletion of the dystrophin gene including exon 45"
] | [
"exercise-induced myalgia",
"calf muscle hypertrophy",
"nonspecific myopathic changes",
"intensity of the stain was decreased",
"myalgia"
] | null | null | [
"high serum creatine kinase level",
"reduced amount of the protein",
"high CKemia"
] | [
"without muscular weakness",
"without evidence of storage of glycogen or lipid",
"normal dystrophin in size",
"not severely affect the function of dystrophin"
] |
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