Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.
A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central nervous system involvement, myopia and lethal cardiomyopathy. The possibility of cardiac transplant as life-saving therapy is suggested.
D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D013577:Syndrome