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.

Santoro, L., Carrozzo, R., Malandrini, A., Piemonte, F., Patrono, C., Villanova, M., et al. (2000). A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency. NEUROMUSCULAR DISORDERS, 10, 450-453.

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency.

MALANDRINI, ALESSANDRO;PALMERI, SILVIA;
2000-01-01

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.
Santoro, L., Carrozzo, R., Malandrini, A., Piemonte, F., Patrono, C., Villanova, M., et al. (2000). A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency. NEUROMUSCULAR DISORDERS, 10, 450-453.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/2726
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