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 journalArticle

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 languageEnglish
Pages (from-to)450-453
Number of pages4
JournalNeuromuscular Disorders
Volume10
Issue number6
DOIs
Publication statusPublished - 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

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