Autosomal recessive lipid storage myopathy (probable carnitine deficiency).
Two sisters died at the age of 17 and 19, respectively, of a myopathy with exacerbations and remissions characterised by pain and weakness of muscles which ended fatally with lactic acidosis and respiratory failure. The clinical picture was very similar to that described in some cases of carnitine deficiency and the histochemical finding of many lipid-filled vacuoles in muscle fibres and the electron microscopical findings were identical to those reported in that disease. The finding of affected sisters supports autosomal recessive mode of inheritance.
D000293:Adolescent; D000328:Adult; D002331:Carnitine / Q000172:deficiency*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000235:genetics*; D009132:Muscles / Q000648:ultrastructure; D010375:Pedigree
D002331:Carnitine