Mitochondria1 encephalomyopathy with decreased succinate‐cytochrome c reductase activity
- 1 January 1984
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 34 (1) , 48
- https://doi.org/10.1212/wnl.34.1.48
Abstract
Siblings (2) with a mitochondrial encephalomyopathy are reported. 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.This publication has 10 references indexed in Scilit:
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