Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy.
Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this lysosomal storage disease is unknown.
D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology