Benign muscular dystrophy with contractures: a new syndrome?
Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal dominant pattern of inheritance is suspected, but the possibility of a Y-to-Y transmission cannot be completely excluded.
D000328:Adult; D001706:Biopsy; D003286:Contracture / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D013577:Syndrome