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• W2029897261 abstract "A 13-year-old Japanese girl developed convulsions, periodic attacks of coma with hyperpyrexia, visual disturbance, aphasia, myoclonus, cerebellar symptoms and dementia. A muscle biopsy four years previously had shown ragged-red fibers. Biochemical studies showed NADH CoQ reductase and cytochrome c oxidase deficiencies in biopsied muscle at 13 years of age, although normal activity of cytochrome c oxidase had been histochemically detected at 9 years of age. A therapeutic trial of citrate administration produced transient improvement in the clinical features and in the hyperlactic and pyruvic acidemia." @default.
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• W2029897261 date "1987-10-01" @default.
• W2029897261 modified "2023-09-26" @default.
• W2029897261 title "MELAS, Myoclonus, Ataxia and Deficiencies of Complexes I and IV in Muscle Mitochondria" @default.
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• W2029897261 doi "https://doi.org/10.1111/j.1442-200x.1987.tb00375.x" @default.
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