title: Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy.
abstract: 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.
mesh_terms: 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