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

L. Santoro; R. Carrozzo; A. Malandrini; F. Piemonte; C. Patrono; M. Villanova; A. Tessa; S. Palmeri; E. Bertini; F. M. Santorelli

doi:10.1016/S0960-8966(99)00122-4

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

L. Santoro, R. Carrozzo, A. Malandrini, F. Piemonte, C. Patrono, M. Villanova, A. Tessa, S. Palmeri, E. Bertini, F. M. Santorelli

Research output: Contribution to journal › Article › peer-review

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. Copyright (C) 2000 Elsevier Science B.V.

Original language	English
Pages (from-to)	450-453
Number of pages	4
Journal	Neuromuscular Disorders
Volume	10
Issue number	6
DOIs	https://doi.org/10.1016/S0960-8966(99)00122-4
Publication status	Published - Aug 1 2000

Keywords

Cytochrome c oxidase deficiency
Leigh syndrome
Peripheral neuropathy

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. / Santoro, L.; Carrozzo, R.; Malandrini, A.; Piemonte, F.; Patrono, C.; Villanova, M.; Tessa, A.; Palmeri, S.; Bertini, E.; Santorelli, F. M.

In: Neuromuscular Disorders, Vol. 10, No. 6, 01.08.2000, p. 450-453.

Research output: Contribution to journal › Article › peer-review

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AU - Santoro, L.

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AU - Malandrini, A.

AU - Piemonte, F.

AU - Patrono, C.

AU - Villanova, M.

AU - Tessa, A.

AU - Palmeri, S.

AU - Bertini, E.

AU - Santorelli, F. M.

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N2 - 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. Copyright (C) 2000 Elsevier Science B.V.

AB - 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. Copyright (C) 2000 Elsevier Science B.V.

KW - Cytochrome c oxidase deficiency

KW - Leigh syndrome

KW - Peripheral neuropathy

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

Abstract

Keywords

ASJC Scopus subject areas

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