title: A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents.
abstract: A case of lipid storage myopathy with systemic carnitine deficiency is reported. There was lipid storage also in the liver but not in leukocytes or the Schwann cells of peripheral nerves. Carnitine concentration was normal in the father but below normal in the mother's muscle where abnormal accumulations of lipid droplets and mitochondria were present between the myofibrils and beneath the sarcolemmal sheath. Histographic analysis demonstrated type I fiber predominance in the patient and in his parents. Hereditary transmission of the disease through a recessive autosomal mechanism might be admitted in this case.
mesh_terms: D000328:Adult; D001706:Biopsy; D002331:Carnitine / Q000097:blood / Q000172:deficiency*; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000378:metabolism / Q000648:ultrastructure*
chemical_list: D006003:Glycogen; D002331:Carnitine