title: Familial hypertrophic cardiomyopathy and muscle carnitine deficiency.
abstract: Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment with L-carnitine, 3-4 g daily, and a long-chain fatty-acid-free diet.
authors.affiliation: Department of Neurology, Hospital Virgen del Rocio, Sevilla, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Bautista
authors.forename: E
authors.initials: E
authors.lastname: Rafel
authors.forename: A
authors.initials: A
authors.lastname: Martinez
authors.forename: I
authors.initials: I
authors.lastname: Sainz
authors.forename: J
authors.initials: J
authors.lastname: Herrera
authors.forename: L
authors.initials: L
authors.lastname: Segura
authors.forename: I
authors.initials: I
authors.lastname: Chinchon
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002331:Carnitine / Q000172:deficiency*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology
chemical_list: D002331:Carnitine