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:1789686 | Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy is a lethal X-linked recessive disorder caused by the deficiency of a component of the muscle fiber membrane cytoskeleton called dystrophin. Becker muscular dystrophy, a clinically milder disorder, results from dystrophin abnormalities rather than deficiency. We identified the first pat... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"particularly severe Duchenne dystrophy"
] | [
"lethal X-linked recessive disorder",
"unique intragenic gene deletion resulting in a dystrophin protein missing the carboxyl-terminal domain"
] | [
"to have a deleterious \"dominant\" effect on his muscle",
"presence of this abnormal protein was more damaging to the myofibers"
] | null | null | [
"deficiency of",
"dystrophin",
"dystrophin abnormalities",
"deficiency"
] | [
"absence of dystrophin"
] |
duchenne:1683669 | Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy. | [
"Immunohistochemical localization of dystrophin was studied in a symptomatic carrier of Becker muscular dystrophy (BMD). Muscle biopsy specimens from a female carrier showed findings compatible with slowly progressive muscular dystrophy by ordinary histochemical examinations. Immunohistochemical study, using an ant... | [
"<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 Immunohistochemical localization of dystrophin\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Becker muscular dystrophy (BMD)",
"slowly progressive muscular dystrophy",
"BMD",
"Duchenne muscular dystrophy",
"BMD"
] | null | null | null | null | null | null |
duchenne:1892202 | In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. | [
"Deoxyribonucleic acid techniques can be used to diagnose Duchenne muscular dystrophy prenatally in male fetuses that are at risk. Deoxyribonucleic acid-based prenatal diagnosis can be impossible when there is only one prior affected male and there is no identifiable deletion or alteration. We performed fetal muscl... | [
"<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 Deoxyribonucleic acid techniques\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchenne muscular dystrophy"
] | null | null | null | null | [
"presence of dystrophin"
] | [
"no identifiable deletion or alteration"
] |
duchenne:1923575 | The impact of Duchenne muscular dystrophy on families. | [
"To understand the experiences of families having a child with Duchenne muscular dystrophy, the investigator studied three families for 10 weeks with a follow-up at 1 year. Six themes recurred in the common experiences in the families: the erosion of hope for normalcy; society's confirmation of the impossibility of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To understand the experiences of families having 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: bo... | [
"Duchenne muscular dystrophy"
] | null | [
"erosion of hope for normalcy",
"confirmation of the impossibility of normalcy"
] | [
"nursing interventions"
] | null | null | null |
duchenne:1944823 | Duchenne muscular dystrophy in a girl identified by dystrophin deficiency. | [
"We report an isolated case of a girl aged three years six months with Duchenne muscular dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin antibody in combination with immunofluorescence, wa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an isolated 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 girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne muscular dystrophy",
"muscular dystrophy",
"DMD"
] | [
"no deletion"
] | null | null | null | [
"was nearly completely absent"
] | null |
duchenne:1920366 | Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy. | [
"We have performed immunohistochemical studies on muscle tissue of three 12 week old fetuses at risk for DMD, using antisera directed against regions located NH2-proximally and centrally in the rod shaped spectrin-like domain and against the COOH-terminus of dystrophin. All three fetuses had a family history of DMD... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have performed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n immunohistochemical studies on muscle tissue\n <span style=\"font-size: 0.8em; font-weig... | [
"DMD",
"DMD"
] | null | null | null | null | [
"Truncated dystrophins",
"positive reaction with the NH2-proximal antibody"
] | [
"negative reaction with the COOH-terminal antibody",
"no mutation is detectable at the DNA level",
"DNA analysis is not informative"
] |
duchenne:1714059 | Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. | [
"We studied dystrophin in three young girls with a sporadic myopathy of early onset, manifested by mild to severe limb weakness, calf hypertrophy, high serum creatine kinase, normal karyotype, and morphologic features in muscle consistent with muscular dystrophy. DNA analysis did not reveal a deletion of the dystro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied dystrophin in 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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"sporadic myopathy",
"Duchenne muscular dystrophy",
"Duchenne"
] | null | [
"of early onset",
"mild to severe limb weakness",
"calf hypertrophy",
"morphologic features in muscle consistent with muscular dystrophy",
"clinical myopathy",
"sporadic proximal limb weakness"
] | null | null | [
"high serum creatine kinase",
"partial dystrophin deficiency"
] | [
"normal karyotype",
"did not reveal a deletion of the dystrophin gene"
] |
duchenne:1930423 | Congenital muscular dystrophy in Marinesco-Sjögren syndrome. | [
"The histochemical and immunocytochemical findings of biopsied muscle in a 2-year-old girl with Marinesco-Sjögren syndrome are reported. Muscle histology consisted of mild muscular dystrophy, such as that found in limb-girdle or non-Fukuyama congenital muscular dystrophy. By immunocytochemical stain using anti-dyst... | [
"<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 histochemical and immunocytochemical findings of biopsied muscle\n <span style=\"font-size: 0.8em; fon... | [
"Marinesco-Sjögren syndrome",
"mild muscular dystrophy",
"Marinesco-Sjögren syndrome"
] | null | [
", such as that found in limb-girdle or non-Fukuyama congenital muscular dystrophy",
"ataxia",
"congenital cataract",
"psychomotor retardation",
"muscle involvement"
] | null | null | null | [
"Duchenne and Becker muscular dystrophies were excluded"
] |
duchenne:1875028 | A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test. | [
"A unique Japanese family with both Fukuyama type congenital muscular dystrophy (FCMD) and Duchenne muscular dystrophy (DMD) is described. Four boys, all from the sixth generation of the same family, were afflicted with severe neuromuscular diseases beginning in early life, three of them presenting the typical phen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A unique \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"severe neuromuscular diseases",
"FCMD",
"DMD",
"childhood muscular dystrophies",
"FCMD",
"DMD"
] | null | null | null | [
"Japanese"
] | null | [
"neither gross deletions nor duplications",
"was completely absent in the DMD",
"DNA analysis of the dystrophin gene is not informative"
] |
duchenne:1873056 | [A two-year-old clinically manifesting carrier of Duchenne muscular dystrophy]. | [
"A two-year-old symptomatic carrier of Duchenne muscular dystrophy (DMD) confirmed by dystrophin immunohistochemical study was reported. She had mild proximal muscular weakness and elevated serum creatine kinase (CK) level. There were no family members of DMD. CT examination revealed low density areas in the muscle... | [
"<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 two-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"mild proximal muscular weakness",
"low density areas in the muscles similar to that seen in the early stage of DMD"
] | null | null | [
"elevated serum creatine kinase (CK) level"
] | null |
duchenne:2071150 | Point mutation in the human dystrophin gene: identification through western blot analysis. | [
"Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient. Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material, a result consistent with premature termination of dystrophin translation. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Using antibodies directed against the amino-terminus of dystrophin, 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 truncated protein\n <s... | [
"Duchenne muscular dystrophy"
] | [
"the mutation in the mRNA and in the gene",
"nonsense mutation",
"mutation, a G to T transversion, at position 3714 changes a glutamic acid codon to an Amber stop codon",
"point mutation in this very large human gene"
] | null | null | null | [
"truncated protein"
] | [
"Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material",
"premature termination of dystrophin translation"
] |
duchenne:2040695 | Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe. | [
"Recent molecular studies have shown that in a patient with Duchenne muscular dystrophy (DMD) Kobe, the size of exon 19 of the dystrophin gene was reduced to 36 bp due to the deletion of 52 bp out of 88 bp of the exon. The consensus sequences at the 5' and 3' splice sites of exon 19 were unaltered (Matsuo, M., et a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recent molecular studies have shown that in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD) Kobe\n <span ... | [
"Duchenne muscular dystrophy (DMD) Kobe",
"DMD Kobe"
] | [
"the size of exon 19 of the dystrophin gene was reduced to 36 bp",
"deletion of 52 bp out of 88 bp of the exon",
"The consensus sequences at the 5' and 3' splice sites of exon 19 were unaltered",
"exon 18 was joined directly to exon 20, so that exon 19 was completely absent",
"this exon was skipped during p... | null | null | null | null | null |
duchenne:2045110 | Sequences of junction fragments in the deletion-prone region of the dystrophin gene. | [
"The Duchenne muscular dystrophy locus is remarkable in that it shows a high mutation rate and the majority of mutations found are deletions. These deletions are generated as meiotic as well as mitotic events and occur preferentially in the central region of the gene. Nothing is known so far about the mechanisms 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 Duchenne muscular dystrophy locus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Duchenne muscular dystrophy locus"
] | [
"deletions",
"of the gene",
"deletions in the central region of dystrophin",
"breakpoints to lie in regions of introns in which stretches of dA-dT are seen"
] | null | null | null | null | null |
duchenne:2070545 | The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD). | [
"We performed genetic analysis for carrier detection for several at-risk females in a four-generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determine the carrier status of female relatives of DMD patients shown to... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We performed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"DMD"
] | [
"deletion within the DMD gene"
] | null | null | null | null | null |
duchenne:1957647 | Myoblast transfer therapy for Duchenne muscular dystrophy. | [
"A randomly selected extensor digitorum brevis (EDB) muscle in each of three Duchenne muscular dystrophy (DMD) boys aged 9 to 10 was injected with approximately 8 x 10(6) myoblasts. The contralateral EDBs were sham-injected with carrier solution. Donor myoblasts were derived from cell culture of muscle biopsies fro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A randomly selected \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extensor digitorum brevis (EDB) muscle\n <span style=\"font-size: 0.8em; font-weight: ... | [
"extensor digitorum brevis (EDB) muscle",
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"isometric twitch and maximum voluntary contraction of the left and the right EDBs were measured",
"increases in tensions",
"Dystrophic characteristics",
"fiber splitting",
"variation in fiber shape and size",
"in these muscles",
"significant structural and functional degeneration",
"improve the bioch... | [
"injected with approximately 8 x 10(6) myoblasts",
"sham-injected with carrier solution",
"Cyclosporine (CsA) treatment began two days before myoblast injection and continued for three months",
"myoblast injection",
"Myoblast-injected EDBs",
"sham-injected EDBs showed reductions",
"myoblast transfer the... | null | null | [
"Sham-injected EDBs",
"no dystrophin",
"no sign of erythema, swelling or tenderness at the injection sites",
"Serial laboratory evaluation including electrolytes, creatinine, and urea did not reveal any significant changes before or after myoblast transfer"
] |
duchenne:1867262 | Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. | [
"Previously we estimated that about 2.5-4% of isolated male patients diagnosed as Duchenne dystrophy (DMD) may have the autosomal recessive form (AR-DMD). Such cases can be distinguished from X-linked DMD through the analysis of dystrophin. Fifty DMD patients from 47 families were investigated for dystrophin and DN... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Previously we estimated that about 2.5-4% of isolated \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: ... | [
"Duchenne dystrophy (DMD)",
"autosomal recessive form (AR-DMD)",
"DMD",
"AR-DMD",
"DMD",
"DMD"
] | [
"X-linked DMD"
] | null | [
"genetic counseling"
] | null | [
"serum enzymes in female relatives"
] | [
"X-linked inheritance could not be confirmed through pedigree data",
"X-linked inheritance cannot be proved"
] |
duchenne:2048927 | [Myocardial involvement in 2 women, carriers of Duchenne de Boulogne muscular dystrophy]. | [
"Duchenne muscular dystrophy is the commonest genetic muscular disease. The prognosis, which depends on cardiac involvement, is poor. In boys, this takes the form of a hypokinetic cardiomyopathy particularly affecting the postero-lateral wall of the left ventricle which then dilates. The recent identification of th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"genetic muscular disease",
"Duchenne muscular dystrophy",
"diffuse muscular disease"
] | [
"identification of the gene which transmits the disease on the X chromosome and of the coded protein, dystrophin",
"genetically determined"
] | [
"cardiac involvement",
"hypokinetic cardiomyopathy particularly affecting the postero-lateral wall of the left ventricle which then dilates",
"isolated cardiac involvement",
"apparently idiopathic dilated cardiomyopathies",
"cardiac involvement"
] | null | null | null | [
"classically thought to be unaffected"
] |
duchenne:2010526 | Studies of an L-rod sublaminar wire spinal fusion. | [
"The spine of a 25-year-old man with Duchenne muscular dystrophy was studied postmortem, 8 years after spine fusion with L-rods and sublaminar wires. The fusion was solid. Instrumentation appeared to have had no adverse effects on the spinal cord or meninges or in the epidural space. When wire removal from the spin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The spine 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 25-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy"
] | null | [
"fusion was solid",
"increased penetration of the wires into the spinal canal"
] | [
"spine fusion with L-rods and sublaminar wires"
] | null | null | [
"Instrumentation appeared to have had no adverse effects on the spinal cord or meninges or in the epidural space"
] |
duchenne:1893667 | [Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene--clinical features and diagnosis]. | [
"Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene were described. Weakness of the lower extremities and pseudohypertrophy of calf muscles began at the age of 2 years in the elder brother and 4 years in the younger brother, respectively. Cli... | [
"<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 long-living\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"dystrophin-related muscular dystrophy",
"Duchenne/Becker muscular dystrophy (DMD/BMD)",
"DMD"
] | [
"in-frame deletion of exon 3 of the dystrophin gene",
"single deletion of exon 3",
"single deletion of exon 3 is an in-frame deletion of the dystrophin gene",
"exon 3 corresponds to a unique domain of the dystrophin molecule; the amino-terminal region which is highly homologous to the actin-binding-region of ... | [
"Weakness of the lower extremities",
"pseudohypertrophy of calf muscles",
"lost ambulation",
"disabled severely"
] | [
"wheelchair bound",
"permanently wheelchair bound"
] | null | null | [
"not have respiratory or cardiac insufficiency"
] |
duchenne:1999345 | Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. | [
"We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular hypotonia and ... | [
"<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 2-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Duchenne muscular dystrophy (DMD)",
"adrenal hypoplasia congenita (AHC)",
"AHC"
] | [
"deletion was revealed, spanning DXS28, the whole dystrophin locus, DXS84 and DXS148",
"DXS67, DXS68 (pter) and OTC (cen) were found to be retained",
"cytogenetically visible microdeletion was also seen in the patient's mother, but not in the mother's sister or the patient's maternal grandmother",
"pter-DXS67... | [
"symptoms of hypotone dehydration",
"severe muscular hypotonia",
"developmental delay"
] | null | null | [
"glycerol kinase deficiency (GK)"
] | null |
duchenne:1851486 | Prenatal deletion detection in a sporadic case of Duchenne muscular dystrophy without genotype information from the affected individual. | [
"We describe the application of deletion screening by amplification of deletion-prone exons via polymerase chain reaction (PCR) in a family with a sporadic case of Duchenne muscular dystrophy (DMD). No DNA was available from the affected patient who died 12 years beforehand at the age of 18 years. Material obtained... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the application 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 deletion screening by amplification of deletion-prone exons via polymerase cha... | null | null | [
"died"
] | [
"Genetic counselling"
] | null | null | [
"No DNA was available"
] |
duchenne:1849353 | Familial occurrence of Duchenne dystrophy through paternal lines in four families. | [
"In a survey of 454 families with patients affected with Duchenne muscular dystrophy (DMD) we have found 4 genealogies with 2 or more affected patients who were related through paternal lines. In 1 of these families, 2 affected cousins showed different DNA deletions suggesting 2 independent mutations; in the other ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a survey of 454 families with patients affected 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 (DMD)\n <span style=\"... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"DNA deletions were also detected in the dystrophin gene",
"transposable elements in other sites of the genome",
"pathogenic deletions, duplications or mutations"
] | null | null | null | null | [
"no DNA deletions were detected",
"negative dystrophin pattern typical of DMD"
] |
duchenne:1824538 | Possibilities and limitations of carrier diagnosis in families with Duchenne muscular dystrophy caused by deletions in the major hot spot region using pulsed-field gel electrophoresis. | [
"The cDNA probes cf56a, b identify deletions in 45% of the investigated patients with Duchenne and Becker muscular dystrophy (DMD/BMD). But carrier detection by junction fragments using normal gel electrophoresis conditions separating fragments up to a size of about 25 kilobases is possible only in selected cases. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The cDNA probes cf56a, b identify deletions in 45% of the investigated 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 and Becker musc... | [
"Duchenne and Becker muscular dystrophy (DMD/BMD)",
"DMD",
"DMD/BMD"
] | [
"deletion patterns: distal to the Sfi I-site F located between exon 48/49",
"proximal to the Sfi I-site F including the P20 intron",
"bridging the Sfi I-site F",
"deletions in the major hot spot region"
] | null | null | null | null | null |
duchenne:1822806 | X-linked and FSH dystrophies in one family. | [
"A family is reported in which the father was affected by facioscapulohumeral muscular dystrophy FSHD. One son was affected by Duchenne muscular dystrophy (DMD). The second son died at the age of 3 yr of a severe primary muscle disease and it is suggested that this was the outcome of dual expression of the two cond... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A family is reported \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n in which the father was affected by facioscapulohumeral muscular dystrophy FSHD\n <sp... | null | null | null | null | null | null | null |
duchenne:1661530 | [A benign variant of the course of Duchenne muscular dystrophy in a child with short stature]. | [
"The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progress... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe 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 benign variety of progressive Duchenne type muscular dystrophy\n <span st... | [
"benign variety of progressive Duchenne type muscular dystrophy"
] | [
"coupled inheritance of progressive Duchenne type muscular dystrophy"
] | [
"short-stature",
"short stature"
] | null | null | [
"measurements of the growth hormone in blood serum",
"decrease of anabolic processes"
] | [
"benign course of the myodystrophic process"
] |
duchenne:2289321 | An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA. | [
"An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were ob... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An isolated case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"deletion of the DMD locus",
"deletion of DMD cDNA 8 mapped within Xp21",
"heterozygous for the deletion",
"mutation or deletion at Xp21",
"Expression of the DMD gene in the heterozygous state",
"random but unequal lyonization"
] | [
"waddling gait",
"pseudohypertrophy of calves",
"pes equinus",
"proximal muscular weakness",
"wasting",
"histological evidence of muscular dystrophy",
"progression of motor disability has been slow",
"mental retardation is moderate"
] | [
"ambulant"
] | null | [
"serum creatine kinase level was high"
] | [
"normal karyotype"
] |
duchenne:2132286 | [Electrocardiographic evaluation of myocardial co-involvement in Duchenne muscular dystrophy: prognostic implications in a case with multiple localizations]. | [
"After a review of the literature on myocardial involvement (MI) in Duchenne's progressive muscular dystrophy (DMD), the authors report a case with an extensive MI. This severe myocardial functional impairment is a poor index in the prognosis of DMD. The authors emphasize the use of echocardiography in the screenin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">After a review of the literature on \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 (MI)\n <span style=\"font-size: 0.8em; font-wei... | [
"Duchenne's progressive muscular dystrophy (DMD)",
"DMD",
"MI",
"DMD"
] | null | [
"myocardial involvement (MI)",
"extensive MI",
"severe myocardial functional impairment"
] | null | null | null | null |
duchenne:2074451 | A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. | [
"A 42-year-old so-called manifesting carrier of Duchenne muscular dystrophy (DMD), whose first complaints were severe myocardial symptoms, is described. Immunohistochemical study using anti-dystrophin anti-serum and analysis of cloned segments of X chromosome DNA were performed. Her two sons and one of her brothers... | [
"<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 42-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"the XmnI(Asp) alleles of pERT 87-15 and the TaqI alleles of pERT 87-8"
] | [
"severe myocardial symptoms",
"dyspnoea",
"back pain",
"palpitations",
"myocardial infarction",
"diffuse abnormalities of myocardial function",
"Minimal weakness",
"decreased deep tendon reflexes were detected in her left lower extremity"
] | null | null | [
"Serum enzymes were increased"
] | [
"However, this diagnosis was excluded"
] |
duchenne:2260862 | Normal dystrophin in McLeod myopathy. | [
"Dystrophin and its gene were studied in a patient with McLeod syndrome. This X-linked recessive myopathy has been localized to Xp21, as has the Duchenne muscular dystrophy gene locus, which codes for dystrophin. Histopathological study of the patient's muscle showed mild subclinical myopathy. Immunological studies... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Dystrophin and its gene were studied in 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 McLeod syndrome\n <span style=\"font-size: 0.8em; f... | [
"McLeod syndrome",
"Duchenne muscular dystrophy gene locus",
"McLeod myopathy"
] | [
"X-linked recessive myopathy",
"Xp21",
"for dystrophin",
", albeit close to the McLeod locus"
] | [
"mild subclinical myopathy"
] | null | null | null | [
"did not detect an abnormality",
"Duchenne muscular dystrophy gene"
] |
duchenne:2260849 | Quadriceps myopathy: forme fruste of Becker muscular dystrophy. | [
"We examined dystrophin, the protein product of the Duchenne muscular dystrophy gene, in muscle biopsy specimens from 4 male patients with quadriceps myopathy, all of whom showed a mild and slowly progressive myopathy confined to the quadriceps muscles. All 4 patients had clear abnormalities of dystrophin, and were... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We examined 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 gene\n <span style=\"font-s... | [
"Duchenne muscular dystrophy gene",
"quadriceps myopathy",
"Becker muscular dystrophy",
"quadriceps myopathy",
"forme fruste Becker muscular dystrophy"
] | null | [
"mild and slowly progressive myopathy confined to the quadriceps muscles"
] | null | null | [
"clear abnormalities of dystrophin"
] | null |
duchenne:1980950 | Dystrophin protein and RFLP analysis for fetal diagnosis and carrier confirmation of Duchenne muscular dystrophy. | [
"A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) a... | [
"<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 pregnant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"fetal DMD"
] | [
"transmission of the DMD gene",
"DMD gene:RFLP haplotype relationships"
] | [
"Male sex in the fetus",
"presence of DMD in the second fetus"
] | [
"continue the pregnancy",
"pregnancy"
] | null | null | [
"indeterminate Duchenne muscular dystrophy (DMD) carrier status",
"unaffected with DMD",
"Creatine kinase (CK) assays to clarify carrier status were inconclusive",
"absence of DMD",
"proven maternal carrier status",
"maternal carrier status remained in doubt through a second pregnancy, even with RFLP stud... |
duchenne:2177691 | [A case of severe infantile form of congenital nemaline myopathy with extensive fatty replacement of the skeletal muscles]. | [
"A case of severe infantile form of congenital nemaline myopathy who developed extensive fatty replacement of the skeletal muscles was described. A girl was born with severe hypotonia and flaccidity of the extremities. She was put on a ventilator because of the severe respiratory insufficiency. Muscle biopsy perfor... | [
"<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 severe infantile form of congenital nemaline myopathy\n <span style=\"font-size: 0.8em; font-wei... | [
"severe infantile form of congenital nemaline myopathy",
"Duchenne muscular dystrophy",
"severe infantile form of congenital nemaline myopathy"
] | null | [
"severe hypotonia",
"flaccidity of the extremities",
"severe respiratory insufficiency",
"anoxic episode",
"fell into a vegetative state",
"diffuse and severe fatty replacement of the skeletal muscles of the trunk and extremities",
"decreased number of large myelinated fibers",
"anoxia",
"chronic de... | [
"put on a ventilator"
] | null | null | [
"Serum creatine kinase and aldolase levels were normal"
] |
duchenne:2273553 | Long-term observation of cardiac function in Duchenne's muscular dystrophy. Evaluation using systolic time intervals and echocardiography. | [
"Cardiac involvement is common in patients with Duchenne type muscular dystrophy (DMD). However, published reports of long-term follow-up studies in the same patients are very rare. The purpose of this study was to clarify the natural course of cardiac dysfunction in DMD, and to analyze the relationship between the... | [
"<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 Cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Duchenne type muscular dystrophy (DMD)",
"DMD",
"DMD",
"cardiac type' DMD",
"DMD"
] | null | [
"Cardiac involvement",
"cardiac dysfunction",
"deterioration of cardiac function",
"skeletal muscular function",
"pre-ejection period/ejection time) of systolic time intervals significantly deteriorated",
"maximal systolic and diastolic endocardial velocity (MSEV and MDEV) and the D/S ratio of echocardiog... | null | null | null | [
"no correlation between",
"and Swinyard's stage",
"no significant change",
"despite mild skeletal muscular dysfunction"
] |
duchenne:2253421 | [Two cases of X-linked ichthyosis associated with myopathies]. | [
"X-linked ichthyosis is an inborn error of metabolism due to the deficiency of steroid sulfatase. We reported two cases of the patients associated with myopathies, which are Duchenne muscular dystrophy (DMD) and myotonic dystrophy (MyD), respectively. In addition to DMD and MyD, they showed corneal opacities, lack ... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"ichthyosis",
"myopathies",
"Duchenne muscular dystrophy (DMD)",
"myotonic dystrophy (MyD)",
"DMD",
"MyD",
"ichthyosis"
] | [
"X-linked",
"inborn error of metabolism"
] | [
"corneal opacities"
] | null | null | [
"deficiency of steroid sulfatase",
"lack of steroid-sulfatase activities in peripheral leukocytes",
"steroid sulfatase deficiency"
] | null |
duchenne:2199849 | Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy. | [
"We studied monozygous twin women, age 63. One, asymptomatic, had a serum creatine kinase (CK) level of 191 units (normal, 1 to 50); her son died of typical Duchenne muscular dystrophy (DMD) at age 18. Her twin sister had symptomatic limb weakness from about age 40. Her serum CK was 495 units. EMG and muscle biopsy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n monozygous twin women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"myopathy"
] | [
"peripheral blood lymphocyte karyotype was 46,XX",
"18% of cells were 45,X, and the others 46,XX, without X/autosome translocation"
] | [
"that was more severe in the symptomatic twin",
"clinical discordance"
] | null | null | [
"serum creatine kinase (CK) level of 191 units (normal, 1 to 50)",
"serum CK was 495 units",
"partial deficiency of the protein",
"dystrophin deficiency"
] | [
"asymptomatic",
"did not reveal a deletion at the DMD locus"
] |
duchenne:2206159 | Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy. | [
"We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. Dystrophin w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 2 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 childhood autosomal recessive muscular dystrophy\n <span style=\"font-size: 0.8e... | [
"childhood autosomal recessive muscular dystrophy",
"childhood autosomal recessive and Duchenne muscular dystrophies"
] | null | [
"slight muscle weakness",
"characteristic features of muscular dystrophy"
] | null | null | [
"antidystrophin antibody"
] | [
"without enlargement of the calf muscles or involvement of the facial muscles"
] |
duchenne:2225660 | [Duchenne muscular dystrophy carrier presenting with mosaic X chromosome constitution and muscular symptoms--with analysis of the barr bodies in the muscle]. | [
"A 53-year-old female with muscular symptoms and incomplete Turner's syndrome was presented. She had two sons with Duchenne type muscular dystrophy (DMD). Her muscular symptoms became apparent at age 52 years, and her elevated serum CK, EMG and pathological findings of the biopsied muscle were consistent with muscu... | [
"<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 53-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"incomplete Turner's syndrome",
"muscular dystrophy",
"DMD gene"
] | [
"45XO/46XX/47XXX chromosome constitution",
"inactivation of normal X chromosome",
"X chromosome mosaicism",
"ratio of 45XO karyotype in the total number of muscular nuclei"
] | [
"muscular symptoms",
"muscular symptoms",
"muscular symptoms",
"rather typical clinical features of DMD",
"muscular symptoms"
] | null | null | [
"elevated serum CK"
] | null |
duchenne:2191136 | Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. | [
"One hundred and thirty-two Scottish families, representing the majority of currently known cases in this country with at least one living subject affected by DMD (110) or BMD (22), were studied with a series of cDNA probes excluding the 3' region of the gene (probes 10-14). Using mainly HindIII digested DNA from a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One hundred and thirty-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 Scottish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"DMD",
"BMD",
"DMD",
"BMD"
] | [
"deletions which ranged from 1 to 32 HindIII fragments in size",
"exon duplications",
"probe cDNA 8",
"deleted for at least one of the fragments detected",
"duplications",
"cDNA deletions or duplications",
"conflict with the previously stated exon order at the 5' end of the gene",
"the most proximal (... | null | null | [
"Scottish"
] | null | null |
duchenne:2159212 | Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. | [
"Glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both. Cytogenetic and molecular studies have localized these defects to a deletion involving the X chromosome at band Xp21, consistent with its ... | [
"<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 (GKD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Glycerol kinase deficiency (GKD)",
"congenital adrenal hypoplasia",
"Duchenne muscular dystrophy",
"complex glycerol kinase deficiency (CGKD)",
"type 2 ocular albinism",
"Aland Island eye disease"
] | [
"deletion involving the X chromosome at band Xp21",
"X-linked recessive pattern of inheritance",
"interstitial deletion in the short arm of the X-chromosome at Xp21."
] | [
"mental retardation",
"short stature",
"hypogonadotropic hypogonadism",
"CGKD phenotype",
"ocular hypopigmentation consistent with Forsius-Eriksson ocular albinism"
] | null | null | null | null |
duchenne:2387114 | [A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers]. | [
"An 8 year-old female infant with the clinical and pathological characteristics of both progressive muscular dystrophy and mitochondrial myopathy was described. Her maternal cousin had clinical and pathological findings of Duchenne muscular dystrophy (DMD). Since the patient had markedly elevated serum CK and calf ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 8 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"mitochondrial myopathy",
"female DMD",
"mitochondrial encephalomyopathy",
"progressive muscular dystrophy",
"mitochondrial myopathy",
"progressive muscular dystrophy"
] | null | [
"clinical and pathological characteristics of both progressive muscular dystrophy",
"calf muscle hypertrophy",
"generalized tonic-clonic convulsions",
"alternate hemiconvulsions",
"recent 4 years",
"mild generalized muscle atrophy",
"weakness predominantly in the proximal limbs",
"expanding arachnoid ... | null | null | [
"markedly elevated serum CK",
"The lactate and pyruvate levels in both serum and cerebrospinal fluid were elevated"
] | [
"with no metabolic acidosis",
"no decrease or defect in the respiratory chain enzymes was detected"
] |
duchenne:2180286 | Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. | [
"One of female MZ twins presented with muscular dystrophy. Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD). However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy. With cDNA probes to the DMD gene, a gene d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One 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: 0.35em; ... | [
"muscular dystrophy",
"Duchenne muscular dystrophy (DMD)",
"limb-girdle muscular dystrophy"
] | [
"de novo mutation which arose in the mother",
"TaqI",
"large gene deletion",
"novel SfiI junction fragments",
"methylation differences of the paternal and maternal X chromosomes in these MZ twins",
"uneven lyonization (X chromosome inactivation)"
] | [
"myopathy"
] | null | null | [
"creatine phosphokinase levels",
"dystrophin of normal size but of reduced amount",
"underexpression of dystrophin"
] | [
"normal karyotypes",
"eliminating the possibility of a translocation affecting DMD gene function",
"eliminating the possibility of uniparental disomy as a mechanism for DMD expression"
] |
duchenne:1969777 | Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results. | [
"DNA-analysis with flanking and intragenic markers gave confusing results in 7 out of 74 (9.5%) Finnish families with Duchenne or Becker muscular dystrophy. In five families a sister or maternal aunt of the patient had elevated serum creatine kinase (CK) activity, although DNA-analysis indicated a low risk for carr... | [
"<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 DNA-analysis with flanking and intragenic markers\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Duchenne or Becker muscular dystrophy"
] | null | null | null | [
"Finnish"
] | null | null |
duchenne:2347279 | [Prenatal diagnosis of Duchenne muscular dystrophy by fetoscopic muscle biopsy. Report of a case]. | [
"A needle muscle biopsy through a fetoscope for the antenatal diagnosis of Duchenne muscular dystrophy (DMD) was reported the mother was a carrier of 30 years old with a family history of Duchenne muscular dystrophy. Her brother died of DMD and her son had suffering from DMD. At 17 weeks of her second gestation, an... | [
"<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 needle muscle biopsy through a fetoscope\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Duchenne muscular dystrophy (DMD)",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"antenatal fetal Duchenne muscular dystrophy"
] | [
"male fetus (46,xy)"
] | [
"appearance of A and I bands"
] | [
"17 weeks of her second gestation",
"induced labor"
] | null | null | null |
duchenne:2404210 | Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. | [
"Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), a much milder form of the disease where the age of onset can sometimes be as late as the third or fourth decade of life, are caused by mutations in the same X-linked gene, a 14 kilobase (kb) transcript which is spread over more than 2 megabases... | [
"<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)",
"Becker muscular dystrophy (BMD)",
"DMD",
"BMD",
"DMD",
"BMD",
"DMD",
"BMD"
] | [
"mutations in the same X-linked gene, a 14 kilobase (kb) transcript which is spread over more than 2 megabases of the human X chromosome",
"deletions and deletions associated with both phenotypes are observed throughout the gene sequence",
"deletions that disrupt the reading frame of the protein",
"deletions ... | null | [
"gene therapy",
"replacement of the very large dystrophin gene",
"manipulatable mini-gene construct"
] | null | [
"dystrophin is present at very low levels",
"protein with reduced abundance or abnormal size",
"truncated polypeptide localized correctly in the muscle cell"
] | null |
duchenne:2184962 | [A manifesting carrier of Duchenne muscular dystrophy presenting mosaic distribution of dystrophin negative and positive muscle fibers]. | [
"A 25-year-old female patient with an approximate 10-year-history of slowly progressive muscle weakness was diagnosed as a manifesting carrier of Duchenne muscular dystrophy (DMD) because her muscle biopsy showed scattered fibers with no dystrophin on immunohistochemical staining. She had no family history of neuro... | [
"<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 25-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)"
] | null | [
"slowly progressive muscle weakness",
"muscle weakness and atrophy of the extremities with slow aggravation",
"asymmetrical muscle atrophy in the lower extremities; the left femur, right femur, left crus, and right crus measured 36.0, 40.5, 31.5, and 35.5 cm in circumference, respectively",
"muscle weakness o... | null | null | [
"serum enzymes of muscular origin",
"were elevated",
"GOT was 44 IU/l, GPT 60 IU/l, LDH 829 IU/l, CK 4238 IU/l, and aldolase 31 SL units"
] | [
"no family history of neuromuscular disorders",
"Deep tendon reflexes of the extremities were almost normoactive with no pathologic reflexes",
"Peripheral nerve conduction velocity was normal"
] |
duchenne:2178618 | Mosaic pattern of dystrophins in Duchenne muscular dystrophy. | [
"Dystrophin is the gene product affected in Duchenne muscular dystrophy (DMD). Dystrophin is demonstrably absent with immunocytochemical staining and undetectable by western blotting of DMD muscles. We report an isolated 7-year-old girl with DMD. Analysis of the patient's and her mother's DNA, with probes covering ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Dystrophin is the gene product affected 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 (DMD)\n <span style=\"font-size: 0.... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"no deletion"
] | null | null | null | null | [
"undetectable",
"DMD muscles"
] |
duchenne:2482550 | [Developmental disorders in young children with Duchenne's muscular dystrophy: implications for diagnosis and treatment]. | [
"The article describes two toddlers having Duchenne muscular dystrophy. In addition to motor problems they also exhibit attention disorders, deficits in short-term memory, speech and language disorders, and poor achievement motivation. Similar problems are reported in older Duchenne children. The etiology of the de... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The article describes 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 toddlers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Duchenne muscular dystrophy",
"Duchenne"
] | null | [
"motor problems",
"attention disorders",
"deficits in short-term memory",
"speech and language disorders",
"poor achievement motivation",
"developmental disabilities"
] | [
"early intervention"
] | null | null | null |
duchenne:2684033 | Dystrophin analysis in the diagnosis of muscular dystrophy. | [
"We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a family in which 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 differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"X linked Duchenne muscular dystrophy",
"autosomal recessive Duchenne-like muscular dystrophy"
] | [
"protein product of the Duchenne muscular dystrophy locus"
] | null | null | null | null | null |
duchenne:2810340 | Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening. | [
"A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A register of families 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 (DMD)\n <span style=\"font-size: 0.8em; font-weigh... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"carrying the DMD gene"
] | null | [
"prenatal diagnosis",
"cDNA probes"
] | [
"Wales"
] | null | null |
duchenne:2672800 | Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. | [
"In this report we describe the use of dystrophin analysis both in the diagnosis of Duchenne muscular dystrophy (DMD) in an aborted fetus and in genetic counseling. Our consultand's initial carrier risk, as based on family history and creatine kinase determinations, was calculated as 0.6%. DNA analysis of her famil... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this report we describe the use of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dystrophin analysis\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Duchenne muscular dystrophy (DMD)",
"aborted fetus",
"fetal DMD",
"muscular dystrophy"
] | null | [
"Skeletal muscle of the 23-wk male abortus was found to be histologically indistinguishable from that of"
] | [
"genetic counseling",
"genetic counseling"
] | null | [
"inherited dystrophin deficiency"
] | [
"gene deletion cannot be identified"
] |
duchenne:2550352 | Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus. | [
"Genomic DNA from five previously unreported patients with glycerol kinase deficiency (GKD), dystrophic myopathy, and adrenal insufficiency were studied with genomic probes and cDNA probes for the Duchenne muscular dystrophy (DMD) locus. These individuals, together with those reported by ourselves and others, show ... | [
"<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 Genomic DNA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"glycerol kinase deficiency (GKD)",
"dystrophic myopathy",
"contiguous gene syndrome involving the DMD, GK, and adrenal hypoplasia congenita (AHC) loci",
"classical DMD",
"GKD",
"DMD"
] | [
"broader distribution of microdeletion breakpoints",
"Xp21 microdeletions extending beyond the DMD locus"
] | [
"adrenal insufficiency"
] | null | null | null | null |
duchenne:2667510 | Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. | [
"We report the ophthalmological findings of a 6-year-old boy who has features of both Aland Island eye disease (also called Forsius-Eriksson ocular albinism) and incomplete congenital stationary night blindness, as defined by Miyake, leading us to suspect that they are the same entity. This child has a deletion of ... | [
"<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 ophthalmological\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Forsius-Eriksson ocular albinism",
"congenital adrenal hypoplasia",
"Duchenne type muscular dystrophy",
"Aland Island eye disease",
"congenital night blindness",
"ocular albinism",
"Aland Island eye disease",
"Aland Island eye disease",
"Forsius-Eriksson-Miyake syndrome",
"complete congenital sta... | [
"deletion of part of band 21 of the short arm of the X chromosome (Xp21)",
"X-linked disorders",
"X-linked incomplete congenital stationary night blindness"
] | [
"features of both Aland Island eye disease (",
"incomplete congenital stationary night blindness",
"negative scotopic and abnormal photopic waveforms that were similar, if not identical, to the electroretinographic findings in both Aland Island eye disease",
"defective dark adaptometry",
"incomplete congeni... | null | null | [
"glycerol kinase deficiency"
] | null |
duchenne:2766561 | A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. | [
"Manifesting carriers of Duchenne and Becker muscular dystrophy are uncommon but well described. Such patients are of particular importance with regard to the differential diagnosis from autosomal recessive limb-girdle muscular dystrophy. All mothers of affected males known to the Genetic Register of Muscular Dystr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Manifesting carriers 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 and Becker muscular dystrophy\n <span style=\"font-size: 0.8em; font-weig... | [
"Duchenne and Becker muscular dystrophy",
"autosomal recessive limb-girdle muscular dystrophy",
"Muscular Dystrophy",
"autosomal recessive limb-girdle muscular dystrophy"
] | [
"carriers of the Duchenne/Becker gene",
"of the Duchenne/Becker gene"
] | null | null | [
"Wales"
] | null | [
"without an appropriate family history"
] |
duchenne:2629623 | Screening for Duchenne muscular dystrophy. | [
"A programme was introduced in Wales to screen all 18 month old boys who were not yet walking for raised creatine kinase activity within the existing community developmental screening programme. During an 18 month period 25 229 such boys were identified of whom 19 930 (79%) had a Denver developmental screening test... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A programme was introduced 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 Wales\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne muscular dystrophy"
] | null | null | [
"community developmental screening programme"
] | [
"Wales"
] | [
"raised creatine kinase activity",
"creatine kinase activity assayed"
] | [
"not yet walking",
"not walking",
"did not walk",
"do not walk"
] |
duchenne:2730379 | Duchenne muscular dystrophy manifesting carriers. | [
"Seven unrelated women were manifesting carriers of Duchenne muscular dystrophy. A manifesting carrier of Duchenne muscular dystrophy is defined as a female with a history of Duchenne muscular dystrophy in her pedigree who has symptomatic weakness. All were characterized by slowly progressive weakness that began in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Seven 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 women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"myopathic",
"autosomal recessive limb girdle muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"symptomatic weakness",
"slowly progressive weakness",
"Asymmetric weakness"
] | null | null | [
"Serum creatine kinase values were elevated"
] | [
"none had an electrocardiogram indicating ventricular hypertrophy"
] |
duchenne:2567117 | Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. | [
"We have studied three families each containing a male with Duchenne or Becker muscular dystrophy. Southern blot analysis using both genomic and cDNA probes revealed that an exon-containing segment of DNA within the gene is duplicated in the probands, their mothers, and, in two cases, their sisters. The grandpatern... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have studied three families each containing 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 male\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Duchenne or Becker muscular dystrophy",
"muscular dystrophy gene"
] | [
"an exon-containing segment of DNA within the gene is duplicated in the probands",
"these duplications",
"intrachromosomal rearrangement"
] | null | null | null | null | null |
duchenne:2750778 | Duchenne muscular dystrophy in monozygotic twins: deletion of 5' fragments of the gene. | [
"A recombinant DNA study for deletion evaluation was performed in a 4 generation family with Duchenne muscular dystrophy (DMD) in twins. The patients were 6 years old, had a history of progressive difficulty in walking since age 4, and showed weak gluteals, iliopsoas, latissimus dorsi, rhomboids, lower trapezius, s... | [
"<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 recombinant DNA study for deletion evaluation\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | null | [
"detected the same antigens in both twins: A2, B44, DR4, and DR5",
"46, XY male",
"absence of 8.5, 8.0, 4.6, 4.2, and 3.1 kb fragments on Hind III blots",
"absence of 13.5, 3.7, 2.9, and 1.4 kb fragments on Bgl II blots",
"cDNA 1-2a corresponding to most 5' region of the DMD gene",
"new mutation"
] | [
"progressive difficulty in walking",
"weak gluteals, iliopsoas, latissimus dorsi, rhomboids, lower trapezius, sternocleidomastoids",
"pseudohypertrophic calves",
"tight heelcords",
"dystrophic alterations"
] | null | null | [
"high serum creatine kinase of 19,000 and 11,000 IU, respectively"
] | [
"normal banding pattern"
] |
duchenne:2568331 | Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy. | [
"Most known mutations in the gene region responsible for Duchenne or Becker muscular dystrophy are deletions of varying extent. Here we describe a 220-kb insertion within the DMD/BMD gene that cosegregates with a somewhat atypical course of muscular dystrophy in a pedigree. The insertion is demonstrated by field-in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Most known \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in the gene region\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Duchenne or Becker muscular dystrophy"
] | [
"mutations in the gene region",
"deletions",
"220-kb insertion within the DMD/BMD gene",
"enlarged SfiI fragment hybridizing to probe J-Bir",
"altered SfiI fragments"
] | [
"somewhat atypical course of muscular dystrophy"
] | null | null | null | [
"did not reveal alterations in coding sequences"
] |
duchenne:2648185 | Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlations. | [
"Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two allelic forms of an X-linked muscle disorder exhibiting phenotypic heterogeneity. We studied 49 individuals clinically diagnosed as having classic DMD, female DMD, mild DMD \"outliers,\" and BMD. The patients' DNA was analyzed and altera... | [
"<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)",
"Becker muscular dystrophy (BMD)",
"muscle disorder",
"classic DMD",
"female DMD",
"mild DMD",
"BMD",
"classic DMD",
"mild DMD",
"BMD",
"classic DMD",
"DMD",
"BMD",
"classic DMD"
] | [
"X-linked",
"internal deletion in the same, relatively small, region of the gene",
"may undergo deletions at a higher rate than the remainder of the gene",
"deletions at the 5' end of the gene",
"deletion at the 5' end",
"detectable deletion",
"deletion at the 5' end"
] | [
"mild phenotype",
"milder clinical course"
] | null | null | null | [
"no alterations in the DNA",
"failed to show muscle dystrophin",
"failed to show deletions",
"normal or low amounts of a dystrophin of smaller molecular weight"
] |
duchenne:2564818 | Use of DNA probes in detecting carriers of Duchenne muscular dystrophy: selected case studies. | [
"Detection of Duchenne muscular dystrophy carriers by genetic analysis is illustrated by four case studies. The technique is most useful in obligate families, in excluding carrier status in isolated cases, and in families in which the affected child demonstrates a molecular deletion. A major limitation of this tech... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Detection of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Duchenne muscular dystrophy"
] | [
"obligate families"
] | null | null | null | null | [
"no family history"
] |
duchenne:2925283 | Dilated cardiomyopathy with regional myocardial hypoperfusion in Becker's muscular dystrophy. | [
"We describe two cases of Becker's muscular dystrophy, both of which presented with a dilated cardiomyopathy with alterations of myocardial perfusion and hypokinesia in the anteroseptal and apical ventricular walls. To the best of our knowledge, only one case with similar cardiologic characteristics has been report... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe two 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 Becker's muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Becker's muscular dystrophy",
"Duchenne form of dystrophy"
] | null | [
"dilated cardiomyopathy",
"alterations of myocardial perfusion",
"hypokinesia in the anteroseptal and apical ventricular walls",
"cardiologic characteristics",
"Myocardial involvement"
] | null | null | null | null |
duchenne:2743685 | [Asymmetrical patchy muscle involvement in manifesting carriers of Duchenne muscular dystrophy--computed tomographical and histological study]. | [
"Two cases of manifesting carriers of Duchenne muscular dystrophy (DMD) were described. Case 1. The 41 year-old woman presented gait disturbance at the age of 40. She had two sons. The first son died of pneumonia soon after birth. The second son developed DMD and died of heart failure when he was 17 years old. Neur... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two cases of manifesting carriers 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; f... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"karyotype was 46XX"
] | [
"gait disturbance",
"mild muscle weakness in neck flexors, gluteus maximus (left side dominance) and hamstrings (right side dominance)",
"bilateral calf pseudohypertrophy",
"myopathic changes",
"the following muscles were partly replaced by fatty tissue: bilateral paravertebral muscles, left gluteus maximus... | null | null | [
"serum creatine kinase (CK) was elevated (1941IU/l)",
"elevated serum CK",
"continued elevation of serum CK"
] | [
"no necrotic fiber",
"no abnormalities in fiber type",
"was rejected",
"lack of subsequent changes in ECG"
] |
duchenne:3245772 | [Duchenne muscular dystrophy in a girl with chromosomal translocation]. | [
"It is reported the case of an 8-year-old girl with clinical and laboratory findings suggestive of Duchenne muscular dystrophy who had a chromosome translocation involving the X chromosome, 46,X,t(Bp+,Xq-). A review about Duchenne muscular dystrophy in females is made, with emphasis about chromosome abnormalities, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It is reported the case of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 8-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"chromosome translocation involving the X chromosome, 46,X,t(Bp+,Xq-)",
"chromosome abnormalities",
"chromosome translocations"
] | [
"clinical and laboratory findings"
] | null | null | null | null |
duchenne:2906525 | Identification of carriers of Duchenne muscular dystrophy: value of molecular analysis. | [
"Currently, molecular methods are the most accurate diagnostic tools for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD). This report illustrates the value of molecular diagnosis as opposed to previous diagnostic methods, the need for frequent re-evaluations as new methodologies develo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Currently, \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 methods\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"deletion of the dystrophin gene",
"RFLP within the region containing the deletion"
] | null | null | null | [
"abnormal in vitro muscle ribosomal protein synthesis"
] | [
"not a carrier"
] |
duchenne:2852474 | Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. | [
"Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High-resolut... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Five \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; vert... | [
"complex glycerol kinase deficiency (CGKD)",
"CGKD",
"Duchenne muscular dystrophy (DMD)",
"gonadotropin deficiency (GTD)"
] | [
"microdeletion in the Xp21 region",
"XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21",
"deletion in the genome",
"a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14",
"gene coding for glycerol kinase (GK) is located within this",
"DNA deleti... | [
"muscular dystrophy",
"muscle weakness",
"mental retardation",
"congenital adrenal hypoplasia"
] | [
"ERT87-30, ERT87-15, ERT87-8, ERT87-1"
] | [
"Japanese"
] | [
"glycerol kinase deficiency"
] | null |
duchenne:3177387 | Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. | [
"While performing a systematic search for chromosomal microdeletions in patients with clinically complex X-linked syndromes, we have observed that large male-viable deletions and duplications are clustered in heterochromatic regions of the X chromosome. Apart from the Xp21 band, where numerous deletions have been f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While performing a systematic search for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chromosomal microdeletions\n <span style=\"font-size: 0.8em; font... | [
"Duchenne muscular dystrophy gene",
"tapetochoroidal dystrophy",
"anhidrotic ectodermal dysplasia"
] | [
"chromosomal microdeletions",
"X-linked syndromes",
"large male-viable deletions and duplications",
"clustered in heterochromatic regions of the X chromosome",
"Xp21 band",
"deletions and duplications",
"span (part of) the Xq21 segment",
"partly overlapping tandem duplications and two interstitial del... | null | null | null | null | null |
duchenne:3399077 | Neonatal rhabdomyolysis as a presentation of muscular dystrophy. | [
"We report a unique presentation of X-linked recessive dystrophy as neonatal rhabdomyolysis. There was induration of the proximal musculature in an otherwise well neonate and striking CK elevation, without myoglobinuria. Muscle biopsy at age 1 year showed dystrophic alterations, and X chromosome analysis showed a d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a unique presentation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X-linked recessive dystrophy\n <span style=\"font-size: 0.8em; font-wei... | [
"rhabdomyolysis"
] | [
"X-linked recessive dystrophy",
"a deletion within or adjacent to the Duchenne/Becker locus"
] | [
"induration of the proximal musculature"
] | null | null | [
"striking CK elevation"
] | [
"otherwise well neonate",
"without myoglobinuria"
] |
duchenne:3294410 | Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy. | [
"The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The chromosomes 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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"molecular deletion",
"deletion of the Xp21.13 subband",
"deletion of the Xp21.13 subband in the mother was a new mutation",
"molecular deletion"
] | [
"very small, cytologically visible Xp21.1 deletion"
] | null | null | null | null |
duchenne:3286148 | Noninvasive nasal mask-assisted ventilation in respiratory failure of Duchenne muscular dystrophy. | [
"The effects of noninvasive nasal mask-assisted ventilation were studied in two patients with chronic respiratory failure due to Duchenne's muscular dystrophy. Observations were made with continuous recordings of transcutaneous CO2 and O2 and ear oximetry. In one case, the mean tcPCO2 fell from 72 mm Hg to 43 mm Hg... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The effects 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 noninvasive nasal mask-assisted ventilation\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Duchenne's muscular dystrophy"
] | null | [
"chronic respiratory failure",
"hypoxemia was corrected",
"sustained clinical improvement for more than 18 months"
] | [
"noninvasive nasal mask-assisted ventilation",
"Prolonged therapy during sleep"
] | null | [
"mean tcPCO2 fell from 72 mm Hg to 43 mm Hg",
"tcPO2 increased from 38 mm Hg to 62 mm Hg"
] | [
"without supplementary oxygen",
"hypercapnia associated with supplementary oxygen",
"without supplementary oxygen"
] |
duchenne:3285207 | Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. | [
"A deficiency of the protein dystrophin has recently been shown to be the probable cause of Duchenne's muscular dystrophy. We sought to determine the relation between the clinical phenotype and the status of dystrophin in muscle-biopsy specimens from 103 patients with various neuromuscular disorders. We found very ... | [
"<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 deficiency of the protein dystrophin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne's muscular dystrophy",
"neuromuscular disorders",
"neuromuscular disorders",
"Duchenne's and intermediate dystrophy",
"myopathies",
"Duchenne's and Becker's dystrophies"
] | null | null | null | null | [
"deficiency of the protein dystrophin",
"very low levels (less than 3 percent of normal levels) or no dystrophin in the severe Duchenne",
"low concentrations of dystrophin in the intermediate (outlier) phenotype",
"dystrophin of abnormal molecular weight"
] | [
"Normal levels of dystrophin of normal molecular weight"
] |
duchenne:3358422 | Localization of the McLeod locus (XK) within Xp21 by deletion analysis. | [
"The McLeod phenotype is an X-linked, recessive disorder in which the red blood cells demonstrate acanthocytic morphology and weakened antigenicity in the Kell blood group system. The phenotype is associated with a reduction of in vivo red cell survival, but the permanent hemolytic state is usually compensated by e... | [
"<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 McLeod phenotype\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"McLeod phenotype",
"McLeod phenotype",
"chronic granulomatous disease (CGD)",
"CGD/McLeod",
"McLeod phenotype"
] | [
"X-linked, recessive disorder",
"X-linked",
"large deletions of the Duchenne muscular dystrophy (DMD) locus",
"deletions for four Xp21 cloned fragments",
"DNA segments within the Xp21 region",
"500-kb interval distal from the CGD locus toward the DMD locus"
] | [
"subclinical myopathy",
"associated myopathy",
"McLeod phenotype associated with CGD",
"only the McLeod phenotype"
] | null | null | [
"weakened antigenicity in the Kell blood group system",
"reduction of in vivo red cell survival",
"permanent hemolytic state",
"erythropoietic hyperplasia",
"elevated creatine kinase (CK)"
] | [
"not CGD",
"but are not deleted for any portion of either the CGD or the DMD loci"
] |
duchenne:2897793 | Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. | [
"DNA sequence polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne muscular dystrophy (DMD) in affected families, but serious limitations and pitfalls are associated with this approach [Darras et al., 1987]. The complementary DN... | [
"<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 DNA sequence polymorphisms (RFLPs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"DMD",
"DMD",
"BMD"
] | [
"X chromosome that carries the mutation for Duchenne muscular dystrophy (DMD)",
"partial gene deletions",
"deletion mutations",
"small deletion in the affected male that was not present in the fetus nor in the mother",
"deletion mutations"
] | null | null | null | null | [
"otherwise uninformative families"
] |
duchenne:2894344 | Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. | [
"We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3",
"deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1",
"deletion of about 4 megabases"
] | [
"congenital adrenal hypoplasia (AHC)",
"mental retardation"
] | null | null | [
"GK deficiency (GK)"
] | [
"L1, C7, and CX5.4 probes gave a normal signal",
"did not show abnormal fragments with L1"
] |
duchenne:2837087 | Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. | [
"We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following order is proposed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have studied 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 (DMD)\n <span style=\"font-size: 0.8em; font-wei... | [
"Duchenne muscular dystrophy (DMD)",
"DMD together with glycerol kinase (GK) deficiency",
"DMD together with both GK deficiency",
"congenital adrenal hypoplasia (AHC)",
"AHC",
"GK",
"DMD",
"DMD",
"GK",
", and AHC"
] | [
"Xp21",
"Xpter - L1",
"Xcen",
"deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus"
] | null | null | null | null | null |
duchenne:3422736 | Prenatal diagnosis in a female carrying a deletion close to the Duchenne locus. | [
"Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence.... | [
"<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 Family studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Duchenne muscular dystrophy"
] | null | null | null | null | null | null |
duchenne:3384440 | An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. | [
"Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial delet... | [
"<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 Deletions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"DMD",
"BMD",
"DMD",
"BMD"
] | [
"Deletions",
"in the same large gene on the short arm of the human X chromosome",
"partial deletions of the same gene locus",
"intragenic deletions",
"translation of triplet codons into amino acids of the protein product",
"shift the translational open reading frame (ORF) of triplet codons for amino acids... | [
"milder clinical phenotype"
] | null | null | null | null |
duchenne:3334897 | Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. | [
"In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a patient suffering 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 X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide... | [
"McLeod syndrome"
] | [
"X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation",
"deletion of the entire X-CGD gene",
"the X-CGD and McLeod loci are physically close in the p21 region of the X chromosome proximal to the Duchenne muscular dystrophy locus"
] | null | null | null | [
"absence of the red cell Kell antigen"
] | null |
duchenne:3195282 | [A combination of Duchenne's progressive muscular dystrophy with congenital ichthyosis--a deletion or 2 independent gene mutations at Xp21--Xp22?]. | [
"The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 2... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors 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 combination of Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-w... | [
"combination of Duchenne muscular dystrophy"
] | [
"chromosomal aberration or two independent gene mutations in chromosome 21)"
] | [
"congenital ichthyosis"
] | null | null | null | null |
duchenne:2891606 | Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. | [
"Congenital adrenal hypoplasia (CAH) and glycerol kinase deficiency (GKD) were diagnosed in a male during the neonatal period. On prometaphase chromosomes there was an interstitial deletion involving Xp21.2 and possibly Xp21.3 in the propositus and his mother. Duchenne muscular dystrophy (DMD) was excluded on the 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 Congenital adrenal hypoplasia (CAH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Congenital adrenal hypoplasia (CAH)",
"glycerol kinase deficiency (GKD)",
"Duchenne muscular dystrophy (DMD) was excluded"
] | [
"interstitial deletion involving Xp21.2 and possibly Xp21.3 in the propositus and his mother",
"the DMD locus was preserved and not translocated",
"the DMD locus is located at the most proximal part of the sub-band Xp21.2 or in Xp21.1",
"the DXS68 (probe L1) is far from it on the distal flanking DNA"
] | null | null | null | null | [
"normal serum creatine kinase"
] |
duchenne:2828063 | Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases. | [
"Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in blood and urine, which can be used for diagnosis. Without recognition of this condition, the chances for lif... | [
"<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 Infantile glycerol kinase deficiency (GKD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Infantile glycerol kinase deficiency (GKD)",
"infantile GKD",
"inborn errors of metabolism"
] | [
"X-linked genetic disease"
] | [
"adrenal insufficiency",
"muscular dystrophy",
"endocrinological",
"died"
] | [
"life-saving steroid treatment",
"genetic counselling"
] | null | [
"enzyme defect",
"increased levels of glycerol in blood and urine"
] | [
"myopathy not distinguishable from Duchenne muscular dystrophy"
] |
duchenne:2889145 | A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. | [
"A gene of unknown function located in band Xp21 on the short arm of the human X chromosome gives rise to X-linked recessive muscular dystrophy, of either Duchenne or Becker type, when mutated. The gene encodes a large muscle-specific transcript of about 14 kilobases (kb) and its genomic size extends over more than... | [
"<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 gene of unknown function located in band Xp21 on the short arm of the human X chromosome\n <span style=\... | [
"recessive muscular dystrophy, of either Duchenne or Becker type",
"Duchenne muscular dystrophy"
] | [
"gene of unknown function located in band Xp21 on the short arm of the human X chromosome",
"X-linked",
"large muscle-specific transcript of about 14 kilobases (kb)",
"Submicroscopic deletions",
"intragenic deletions",
"female gametogenesis",
"deletion of the sequence recognized by intragenic probe J-Bi... | null | null | null | null | null |
duchenne:3629260 | Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. | [
"The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the ... | [
"<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 gene responsible for Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Becker muscular dystrophy (BMD)",
"DMD",
"BMD"
] | [
"gene responsible for Duchenne muscular dystrophy (DMD)",
"maps to the X chromosome short arm, band Xp21",
"the Xp21 region is disrupted by an X-autosome translocation",
"exchange has physically disrupted the DMD/BMD locus",
"t(X;21)(p21;p12) translocation",
"The translocation is reciprocal, but not conse... | null | null | null | null | null |
duchenne:3424874 | Hypokalemia complicating Duchenne muscular dystrophy. | [
"Although patients with Duchenne muscular dystrophy (DMD) have been shown to have decreased total body potassium levels, serum potassium levels have generally been though to be within normal limits. We report two siblings with DMD noted to be hypokalemic in conjunction with a respiratory illness. Hypokalemia may ha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although 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 (DMD)\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Duchenne muscular dystrophy (DMD)",
"respiratory illness",
"DMD",
"DMD"
] | null | [
"pulmonary insufficiency"
] | null | null | [
"decreased total body potassium levels",
"hypokalemic",
"Hypokalemia",
"hypokalemia"
] | [
"serum potassium levels",
"though to be within normal limits"
] |
duchenne:3655848 | Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. | [
"In 1981 a report appeared of a patient with Duchenne muscular dystrophy associated with dwarfism caused by growth hormone deficiency, in whom the muscular disease was unusually benign. The authors suggested that the benign course might be related to the growth hormone deficiency and dwarfism. Other authors later s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 1981 a report appeared of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; ... | [
"Duchenne muscular dystrophy",
"experimentally induced pituitary dwarfism",
"Becker",
"limb-girdle dystrophy",
"dystrophic process"
] | null | [
"dwarfism",
"dwarfism",
"pathological expressions of the dystrophy were markedly reduced",
"short stature",
"reduced muscular growth"
] | null | null | [
"growth hormone deficiency",
"growth hormone deficiency",
"growth hormone deficiency"
] | [
"muscular disease was unusually benign",
"did not have a particularly benign course"
] |
duchenne:3612177 | The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins. | [
"We have ascertained retrospectively a female patient, one of identical twins, who was diagnosed at age 23 years as having Duchenne muscular dystrophy (DMD). A muscle biopsy at that time showed a pattern in which large areas of destroyed muscle fibers replaced with adipose tissue were interspersed with normal-appea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have ascertained retrospectively 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-hei... | [
"Duchenne muscular dystrophy (DMD)",
"lyonization"
] | [
"uneven lyonization",
"excess of paternally derived X-chromosomes being inactivated in the patient",
"X-chromosome inactivation",
"significantly different proportion of active maternal and paternal X-chromosomes"
] | [
"uneven lyonization"
] | [
"Twinning",
"splitting of the embryonic mass"
] | null | null | [
"normal menstrual history",
"Turner's syndrome"
] |
duchenne:2885783 | Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy. | [
"We studied twin sisters, in their sixth decade, who were obligate carriers of Duchenne dystrophy. One had a slowly progressing limb-girdle myopathy since her mid-20s. The other sister showed no evidence of neuromuscular disease by history or on physical examination but had high serum CK values and degeneration and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n twin sisters, in their sixth decade\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | null | null | [
"slowly progressing limb-girdle myopathy"
] | null | null | [
"high serum CK values"
] | [
"no evidence of neuromuscular disease by history or on physical examination",
"karyotypically normal females",
"cytogenetically normal X-chromosomes"
] |
duchenne:3296770 | Activation of the intramyofibral autophagic-lysosomal system in muscular dystrophy. | [
"Skeletal muscles obtained from myopathies with myofiber necrosis, including mdx dystrophic mice, plasmocid-induced myopathy in rats, and patients with Duchenne muscular dystrophy, were examined immunohistochemically with anticathepsin-peroxidase conjugates. Strong reactions for lysosomal cysteine proteinases, whic... | [
"<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 Skeletal muscles\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"myopathies",
"mdx dystrophic mice",
"plasmocid-induced myopathy",
"Duchenne muscular dystrophy",
"plasmocid myopathy",
"muscular dystrophy",
"distal myopathy"
] | null | [
"myocellular damage"
] | null | null | [
"Abnormal increases of cathepsins L and B",
"by macrophage proteinases"
] | [
"Apparently normal and regenerating myofibers did not stain for lysosomal cathepsins",
"without macrophageal infiltration"
] |
duchenne:3608214 | Female carriers of Duchenne muscular dystrophy: a dilemma. | [
"In this paper female non-identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne-like dystrophy are discussed. These cases show no evidence of translocat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this paper \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... | [
"Duchenne-like dystrophy",
"Duchenne dystrophy"
] | null | [
"typical features and the anticipated progression of Duchenne dystrophy"
] | null | null | [
"glycolytic enzymes",
"mitochondrial energy-producing capacity"
] | [
"no evidence of translocation or mosaicism"
] |
duchenne:3816259 | Weaning from mechanical ventilation: successful use of modified inspiratory resistive training in muscular dystrophy. | [
"An 18-yr-old man with Duchenne muscular dystrophy and ventilatory failure could not be weaned from mechanical ventilation using a T-piece method, despite repeated attempts over 3 months. Subsequently, we weaned the patient using inspiratory muscle resistive training (IRT), modified by the concurrent delivery of in... | [
"<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 18-yr-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Duchenne muscular dystrophy"
] | null | [
"ventilatory failure",
"vital capacity had increased from 380 to 850 ml",
"maximal inspiratory airway pressure from -28 to -50 cm H2O",
"severe ventilatory failure"
] | [
"weaned",
"inspiratory muscle resistive training (IRT), modified by the concurrent delivery of intermittent mandatory ventilation (IMV)",
"training program",
"the sessions were gradually prolonged from 5 min to a maximum of 30 min",
"the IMV rate was gradually decreased",
"of the resistive load was gradua... | null | null | [
"could not be weaned from mechanical ventilation using a T-piece method, despite repeated attempts over 3 months",
"tolerance of T-piece breathing"
] |
duchenne:3030926 | DNA deletions in mild and severe Becker muscular dystrophy. | [
"The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band s... | [
"<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 The DNA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Becker muscular dystrophy (BMD)",
"severe Duchenne muscular dystrophy (DMD)",
"BMD",
"BMD",
"DMD",
"classical Becker-type dystrophy",
"BMD",
"BMD"
] | [
"DNA deletions",
"clear deletions",
"small deletion",
"deletions in DXS164",
"loci defined by probes commonly deleted in classical DMD patients",
"are also deleted",
"DMD"
] | [
"aberrant band sizes",
"large deletions",
"severe end of the Becker clinical spectrum"
] | null | null | null | null |
duchenne:3466853 | A linkage study of Emery-Dreifuss muscular dystrophy. | [
"We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage betw... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have searched for linkage between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n polymorphic loci defined by DNA markers on the X chromosome\n <span s... | [
"X-linked Emery-Dreifuss muscular dystrophy (EDMD)",
"EDMD",
"EDMD"
] | [
"polymorphic loci defined by DNA markers on the X chromosome",
"high recombination rates",
"and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy",
"and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15",
"secon... | [
"disorder strongly resembling EDMD",
"colour-blindness",
"muscle integrity"
] | null | null | null | null |
duchenne:3027343 | Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. | [
"A syndrome of Duchenne muscular dystrophy (DMD), adrenal hypoplasia, glycerol kinase deficiency, and mental retardation has been recognised. We report a further case ascertained from a history of DMD, severe mental retardation, and an Addison-like disorder. Cytogenetic analysis of the proband revealed an interstit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A syndrome 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; line-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"Addison-like disorder",
"DMD",
"glyceroluria",
"DMD"
] | [
"interstitial deletion of the short arm of the X chromosome. from Xp21.1 to Xp22.11, comprising about 9% of the length of the normal X chromosome",
"existence of a deletion in the",
"deletion of DNA sequences localised to the region Xp21"
] | [
"adrenal hypoplasia",
"mental retardation",
"severe mental retardation"
] | null | null | [
"glycerol kinase deficiency",
"gross glyceroluria",
"hyperglycerolaemia",
"glycerol kinase deficiency"
] | [
"probes 754, C7, XJ1-1, and pERT87 consistently failed to hybridize to his DNA",
"no evidence of chronic granulomatous disease, other immunological defect",
"retinitis pigmentosa",
"cytogenetic abnormality"
] |
duchenne:2879922 | Duchenne muscular dystrophy in one of monozygotic twin girls. | [
"Monozygotic twin girls are reported, one of whom has the typical clinical features of Duchenne muscular dystrophy despite a normal female karyotype. Although certain features of the biopsy were atypical, the clinical diagnosis was supported by persistent markedly raised blood creatine kinase levels and findings ty... | [
"<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 | [
"X inactivation"
] | [
"typical clinical features of Duchenne muscular dystrophy",
"findings typical of DMD"
] | null | null | [
"persistent markedly raised blood creatine kinase levels"
] | [
"normal female karyotype",
"were atypical"
] |
duchenne:3777022 | Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution. | [
"We report on a 4-year-old girl with Duchenne muscular dystrophy (DMD). One of her sisters had grossly elevated serum creatine-kinase and pyruvate-kinase levels, and one of her maternal great uncles was presumptively affected by DMD. Cytogenetic analysis showed a 45,X/46,XX/47,XXX chromosome constitution. The mater... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 4-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"45,X/46,XX/47,XXX chromosome constitution",
"The maternally inherited DMD gene is presumed to be present on the single X of the 45,X cell line."
] | null | null | null | null | null |
duchenne:3777020 | Duchenne muscular dystrophy in a girl with an (X;15) translocation. | [
"This is a report of a girl with Duchenne muscular dystrophy (DMD) associated with an 46,X,t (X;15) (p21; q 26) chromosome constitution. Although in the eight published cases of girls with DMD and a t(X;aut) different autosomes were involved in the translocation, the breakpoint was always at Xp21. The present case ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a report 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 girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"46,X,t (X;15) (p21; q 26) chromosome constitution",
"t(X;aut) different autosomes were involved in the translocation",
"breakpoint was always at Xp21",
"DMD gene must be located at Xp21"
] | null | null | null | null | null |
duchenne:2876949 | De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy. | [
"The single X chromosome of a girl with Turner syndrome (45,X) and typical Duchenne muscular dystrophy was investigated at the chromosomal and DNA levels. No visible abnormality of the residual X chromosome was found upon high-resolution R-banding. The DNA was analysed by Southern blotting and hybridization with se... | [
"<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 single X chromosome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Turner syndrome (45,X)",
"typical Duchenne muscular dystrophy"
] | [
"single X chromosome",
"molecular deletion was",
"probes pERT 87.1, pERT 87.8, and pERT 87.15"
] | null | null | null | null | [
"No visible abnormality of the residual X chromosome",
"gave a normal signal"
] |
duchenne:3766116 | Infantile facioscapulohumeral muscular dystrophy: new observations. | [
"Clinical, electrodiagnostic, and biopsy findings in a family with infantile facioscapulohumeral muscular dystrophy are reported. Four of eight family members having the disorder, all with onset in infancy, developed severe weakness leading to death in adolescence. The clinical course and prognosis of infantile fac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electrodiagnostic, and biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"infantile facioscapulohumeral muscular dystrophy",
"infantile facioscapulohumeral muscular dystrophy",
"Duchenne muscular dystrophy",
"conventional facioscapulohumeral muscular dystrophy"
] | [
"gene coding for"
] | [
"severe weakness",
"death",
"unusual infantile presentation",
"high mortality"
] | null | null | null | null |
duchenne:3742323 | Duchenne muscular dystrophy and malignant hyperthermia--two case reports. | [
"The case histories are presented including the anaesthetic and postoperative management, of two children, a two-year-old with undiagnosed Duchenne muscular dystrophy (DMD) and a three-year-old with known DMD. The child with undiagnosed DMD had no symptoms of DMD and had received halothane twice before, without suc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case histories are presented including the anaesthetic and postoperative management, of 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 children\n ... | [
"undiagnosed Duchenne muscular dystrophy (DMD)",
"known DMD",
"undiagnosed DMD",
"malignant hyperthermia",
"DMD"
] | null | [
"bilateral masseter muscle spasm",
"ventricular tachycardia",
"cardiac arrest",
"severe metabolic and respiratory acidosis",
"high peripheral venous pressure",
"massive hepatosplenomegaly",
"died",
"high intraoperative heart rate (155-160 beats X min-1)",
"intraoperative axillary temperatures ranged... | [
"received halothane twice before",
"without succinylcholine",
"uneventful induction of anaesthesia with halothane, nitrous oxide and O2",
"succinylcholine",
"resuscitated",
"nor have his anaesthetic machine flushed with oxygen for an extended period prior to induction of anaesthesia",
"anaesthetized wit... | null | [
"hyperkalaemia (K+ = 12.57 mEq X L-1)",
"metabolically acidotic"
] | [
"no symptoms of DMD",
"no apparent difficulty",
"not hyperthermia",
"did not receive prophylactic or intraoperative dantrolene"
] |
duchenne:3524231 | Treatment of Duchenne muscular dystrophy with growth hormone inhibitors. | [
"A controlled, double-blind therapeutic trial with the drug mazindol, a growth hormone inhibitor, was performed in a pair of 7 1/2 year-old monozygotic twins, with Duchenne muscular dystrophy (DMD). The rationale for this trial was based on a patient (reported previously) affected simultaneously with DMD and growth... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A controlled, double-blind \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n therapeutic trial with the drug mazindol, a growth hormone inhibitor\n <span st... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"benign course of the dystrophic process"
] | [
"therapeutic trial with the drug mazindol, a growth hormone inhibitor",
"twins received 2 mg of mazindol daily",
"treatment with a GH inhibitor"
] | null | [
"growth hormone (GH) deficiency"
] | null |
duchenne:3742857 | Xp21/autosome translocations. Case report and risk for Duchenne muscular dystrophy. | [
"An isolated case of Duchenne muscular dystrophy in a 15-year-old retarded girl with a de novo t(X;2) (p21.2;q37) translocation is described. Her clinical history is presented, with particular emphasis on CK level determinations made at several different times during her development. The similarities between this p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An isolated case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"DMD"
] | [
"de novo t(X;2) (p21.2;q37) translocation",
"de novo translocations with a breakpoint at Xp21"
] | null | null | null | null | null |
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