Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy. In our study MVP was present in six of 22 Duchenne dystrophy cases (27%) followed in the Maryland General Hospital Muscular Dystrophy Clinic. In addition, seven carriers of Duchenne and X-linked benign (Becker) dystrophy had evidence of MVP. Autosomal dominant transmission of MVP was present in four families. The unusually high prevalence of MVP in families with X-linked muscular dystrophy may have potential value in the recognition of the carrier trait.
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PMID:Familial occurrence of mitral valve prolapse in X-linked muscular dystrophy. 43 21

Measurement of serum creatine phosphokinase (CPK) is the most commonly applied test for carrier detection in Duchenne muscular dystrophy. About two thirds of all carriers have markedly elevated CPK levels. Age correction of CPK measurements would be straightforward if carriers of all ages could be unambiguously identified. Since such identification is impossible, we elaborate an indirect statistical method which is based on Haldane's theory of the balance between selection and mutation for X-linked lethals. We also apply this method to a large body of data gathered on female relatives of Duchenne muscular dystrophy patients and on controls. The results are compared with earlier partial findings.
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PMID:A new method for the analysis of age trends in CPK levels with application to Duchenne muscular dystrophy. 46 74

Bayes' law or theorem (1763) allows the expression of a posterior probability of heterozygosity for an X-linked gene, from two different kinds of information, namely: 1. the prior probability for the mother of an isolated case of Duchenne muscular dystrophy: --to be a carrier by mutation of the gene in one of her parents, or by segregation from earlier generations; --to be herself the origin of the mutation; 2. conditional probabilities, taking into consideration the existence of this woman's normal brothers, sons or maternal uncles and the serum creatine-kinase levels in the possible carrier(s) of the mutant gene. In some situations, these calculations give a recurrence risk which is lower than expected at first and allows sometimes to reassure anxious consultants on their genetic risk.
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PMID:[The use of Bayes theorum in genetic counseling in cases of Duchenne muscular dystrophy]. 54 78

A man with Duchenne muscular dystrophy fathered two living children. He was 1 of 10 affected males in 5 generations. Clinical and genetic patterns, muscle biopsies, autopsy results, and serum enzymes were all compatible with the diagnosis of Duchenne muscular dystrophy. History, blood typing, and karyotypes indicated that he was the biologic father. This report gives confirmatory evidence that Duchenne dystrophy is transmitted as an X-linked defect.
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PMID:Reproduction in Duchenne dystrophy. 57 Jun 59

This is a review of clinical, cardiologic, electrophysiologic, pathologic, and serum creatine kinase changes in eight families with slowly progressive X-linked Becker-type muscular dystrophy. All but one of the patients were able to walk until the age of 16 years, and most lived beyond 20. In every family, electromyography and muscle biopsy showed features which, on the basis of classical criteria, were interpreted as those of both myopathy and denervation, although among patients and among families, one or the other of these processes predominated. The most frequent biopsy picture was of fiber atrophy and hypertrophy, with many split and angulated fibers, and clumps of pyknotic nuclei. Necrosis, phagocytosis, regeneration, endomysial fibrosis, and some fatty infiltration were commonly seen. Review of a family originally described by Becker showed a similar biopsy picture; These pathologic changes are separable from those of Duchenne muscular dystrophy, but they often overlap with those seen in other chronic neuromuscular diseases.
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PMID:Becker-type muscular dystrophy. 57 27

One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub-divided into those with and without severe mental handicap. In those with severe mental handicap, ages at onset and of becoming confined to a wheelchair were later, the fall in SCK level with age was less marked, and the urinary excretion of certain aminoacids was greater than in affected boys with normal intelligence. Though the number of subjects investigated was relatively small (15 in each group) and further studies are therefore needed, the results suggest that DMD may not be a single disease entity.
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PMID:A study of possible heterogeneity in Duchenne muscular dystrophy. 57 78

The response of serum creatine phosphokinase (SCPK) to intravenous hydrocortisone was studied in different neuromuscular diseases, in Duchenne carriers and relatives of various muscular dystrophy (MD) cases. SCPK activity increased significantly in MD cases, 50% of known and 18.7% of possible Duchenne carriers. No such increase was found in other neuromuscular disease, in other relatives of MD cases and in normal controls. An inverse correlation was observed between the grade of disability and post-steroid percentage increase of SCPK activity in X-linked severe (DMD) cases. Such an inverse correlation was also found between the duration of the disease and post-steroid percentage increase of SCPK activity in DMD cases. A possible explanation is given.
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PMID:Steroid-CPK test. A new diagnostic aid for muscular dystrophy and its carriers? 71 Apr 53

Using a number of different methods, it is confirmed that approximately one third of all cases of X-linked Duchenne muscular dystrophy are new mutants, the remainder being sons of carriers.
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PMID:Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy. 73 22

A modification is given of the original density function formula of EMERY and MORTON for estimating heterozygosity in X-linked Duchenne muscular dystrophy. This modification takes into account SCK levels in both normal sisters and normal daughters of a suspected carrier in families where there is only one affected male.
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PMID:Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy. 86 58

Independent studies by two different groups (Madras and Edinburgh) have failed to confirm the suggestion that measurement of the serum level of pyruvate kinase (EC 2.7.1.40, PK) may be superior to measurement of the serum level of creatine kinase (EC 2.7.3.2, CK) for detecting female carriers of X-linked Duchenne muscular dystrophy (DMD). At present the serum level of creatine kinase remains the best test for this purpose.
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PMID:Serum pyruvate kinase in carriers of Duochenne muscular dystrophy. 89 Sep 59


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