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

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

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Keywords

Cytochrome c oxidase deficiency
Leigh syndrome
Peripheral neuropathy

ASJC Scopus subject areas

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

Cite this

Santoro, L., Carrozzo, R., Malandrini, A., Piemonte, F., Patrono, C., Villanova, M., Tessa, A., Palmeri, S., Bertini, E., & Santorelli, F. M. (2000). A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscular Disorders, 10(6), 450-453. https://doi.org/10.1016/S0960-8966(99)00122-4

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

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10.1016/S0960-8966(99)00122-4