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• W2063669493 abstract "We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a novel homozygous nonsense mutation which predicts a truncated surf1 protein." @default.
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• W2063669493 date "2000-08-01" @default.
• W2063669493 modified "2023-09-23" @default.
• W2063669493 title "A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency" @default.
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• W2063669493 doi "https://doi.org/10.1016/s0960-8966(99)00122-4" @default.
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