Further studies of mitochondrial and lipid storage myopathies.
Further observations on a family with facioscapulohumeral (FSH) muscular dystrophy due to mitochondrial myopathy, and on a case with lipid storage myopathy are reported. One member of the family with FSH muscular dystrophy died due to a viral pneumonia, during which she developed gross hyperlacticacidaemia and acidosis. Autopsy examination showed that the mitochondrial morphological abnormality was restricted to the skeletal muscle. Two other members of the family, who also had mitochondrial myopathy, have developed a cerebellar syndrome. The skeletal muscle carnitine level in the propositus of this family was normal. A woman with lipid storage myopathy has been shown to have skeletal muscle carnitine deficiency, the plasma carnitine level being only slightly lower than normal.
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002331:Carnitine / Q000172:deficiency; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D013577:Syndrome
D002331:Carnitine