[Sporadic occurrence of benign myopathy with early contractures (Emery, Dreifuss and Rotthauwe)].
A myopathy which sporadically appeared in a young male corresponds clinically, electromyographically, histologically and cardiologically to the rare picture of the X-chromosomally recessive benign myopathy with early contractures. The coordination to the clinical picture mentioned and the genetic advice, taking into consideration the X-chromosomally recessive heredity, are discussed and proved.
D000328:Adult; D003286:Contracture / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000473:pathology; D014960:X Chromosome
Sporadisches Auftreten der benignen Myopathie mit Frühkontrakturen (Emergy-Dreifuss und Rotthauwe).