[Present-day clinico-genetic framework of Duchenne's muscular dystrophy].
The authors emphasize the importance of adding a genetic criterion to the definition of Duchenne dystrophy. The clinical characteristics, however, on the basis of recent molecular genetic studies, are sufficiently precise to make the condition heterogeneous: two types of Duchenne dystrophy, with or without mental retardation in affected boys; muscular dystrophy in girls with mild symptomatic weakness in "manifesting carriers" up to severe myopathy in girls, found to be associated with reciprocal chromosomal translocation (X-autosome), always at the same site, Xp21. Diagnostic use of Xp21 probes is now as necessary as EMG, muscle biopsy and serum CK assay for the definition of Duchenne muscular dystrophy.
Meola
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Istituto di Clinica Neurologica, Centro Dino Ferrari, Università, Milano.
D003402:Creatine Kinase / Q000378:metabolism; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014178:Translocation, Genetic
D003402:Creatine Kinase
Moderno inquadramento clinico-genetico della distrofia muscolare di Duchenne.