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- W1983196141 abstract "Boys with Duchenne muscular dystrophy (DMD), an X-linked disease, have progressive weakness and wasting of the skeletal musculature. Management of complications has improved, but the disease still usually causes death in the early 20s. Since the discovery of the gene in 1987, genetic counselling and the increasing sophistication of carrier testing 1 van Essen AJ Kneppers A van der Hout AH et al. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: and updated protocol. J Med Genet. 1997; 34: 805-812 Crossref PubMed Scopus (47) Google Scholar has led to fewer boys with DMD being born in known families. However, the high rate of new mutations in the large dystrophin gene results in the continuing emergence of new carriers and patients. Early diagnosis of DMD allows the family to make choices about family planning: in addition, any future therapeutic interventions are likely to make a real difference to prognosis only if they can be instituted early. 2 Kakulas BA Problems and potential for gene therapy in Duchenne muscular dystrophy. Neuromusc Disord. 1997; 7: 319-324 Summary Full Text Full Text PDF PubMed Scopus (19) Google Scholar In this context, we have reviewed our experience with the diagnosis of DMD in the 5 years to September, 1998, in the former Northern Region of England." @default.
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- W1983196141 date "1999-02-01" @default.
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- W1983196141 title "Failure of early diagnosis in symptomatic Duchenne muscular dystrophy" @default.
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