Emery-Dreifuss muscular dystrophy.
The muscular dystrophies are a group of disorders, genetically determined, with progressive degeneration of muscle(s), without central nervous nor peripheral nerve abnormalities. The Emery-Dreifuss muscular dystrophy is one of these. We report a case with typical features.
De Smet
L
L
Department of Orthopedic Surgery, U.Z. Pellenberg, Lubbeek, Pellenberg, Belgium. Luc.desmet@uz.kuleuven.ac.be
D000328:Adult; D001284:Atrophy / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics; D004562:Electrocardiography; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000473:pathology*; D017354:Point Mutation / Q000235:genetics
D034904:Lamin Type A; C440308:lamin C