Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

J. E Riggs; S. S Schochet; A. V Fakadej; A Papadimitriou; S DiMauro; T. W Crosby; L Gutmann; R. T Moxley

doi:10.1212/WNL.34.1.48

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Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

Journal article

Peer reviewed

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

J. E Riggs, S. S Schochet, A. V Fakadej, A Papadimitriou, S DiMauro, T. W Crosby, L Gutmann and R. T Moxley

Neurology, Vol.34(1), pp.48-48

01/01/1984

DOI: 10.1212/WNL.34.1.48

PMID: 6318158

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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.

Details

Title: Subtitle: Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity
Creators: J. E Riggs
S. S Schochet
A. V Fakadej
A Papadimitriou
S DiMauro
T. W Crosby
L Gutmann
R. T Moxley
Resource Type: Journal article
Publication Details: Neurology, Vol.34(1), pp.48-48
DOI: 10.1212/WNL.34.1.48
PMID: 6318158
ISSN: 0028-3878
eISSN: 1526-632X
Language: English
Date published: 01/01/1984
Academic Unit: Neurology
Record Identifier: 9984020784102771

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