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Case Reports
. 1984 Jan;34(1):48-53.
doi: 10.1212/wnl.34.1.48.

Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity

J E Riggs, S S Schochet Jr, A V Fakadej, A Papadimitriou, S DiMauro, T W Crosby, L Gutmann, R T Moxley
Case Reports

Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity

J E Riggs et al. Neurology. 1984 Jan.

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.

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