Neurology. 1984 Jan;34(1):48-53.

Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity.

Riggs JE, Schochet SS Jr, Fakadej AV, Papadimitriou A, DiMauro S, Crosby TW, Gutmann L, Moxley RT.

Abstract

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.

PMID:: 6318158; [PubMed - indexed for MEDLINE]

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Succinate Cytochrome c Oxidoreductase

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