Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity.
We report two siblings with a mitochondrial encephalomyopathy. The syndrome was characterized by ataxia, intellectual impairment, myoclonic jerks, rare seizures, and small stature. Muscle biopsy specimens showed abnormal accumulations of mitochondria and lipid droplets. Biochemical studies on muscle demonstrated decreased succinate-cytochrome c reductase activity in the mitochondrial respiratory chain.
D001927:Brain Diseases / Q000201:enzymology / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000201:enzymology / Q000473:pathology*; D013384:Succinate Cytochrome c Oxidoreductase / Q000378:metabolism
D013384:Succinate Cytochrome c Oxidoreductase