Autosomal dominant humeroperoneal myopathy.
Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression.
D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006329:Heart Conduction System / Q000503:physiopathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome