| Autor: |
Riggs JE, Schochet SS Jr, Fakadej AV, Papadimitriou A, DiMauro S, Crosby TW, Gutmann L, Moxley RT |
| Jazyk: |
angličtina |
| Zdroj: |
Neurology [Neurology] 1984 Jan; Vol. 34 (1), pp. 48-53. |
| DOI: |
10.1212/wnl.34.1.48 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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