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 languageEnglish
Pages (from-to)450-453
Number of pages4
JournalNeuromuscular Disorders
Volume10
Issue number6
DOIs
Publication statusPublished - Aug 1 2000

Fingerprint

Cytochrome-c Oxidase Deficiency
Leigh Disease
Peripheral Nervous System Diseases
Biopsy
Mutation
Nonsense Codon
Electron Transport Complex IV
Skeletal Muscle
Coloring Agents
Muscles
Genes
Proteins

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

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

Santoro, L, Carrozzo, R, Malandrini, A, Piemonte, F, Patrono, C, Villanova, M, Tessa, A, Palmeri, S, Bertini, E & Santorelli, FM 2000, 'A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency', Neuromuscular Disorders, vol. 10, no. 6, pp. 450-453. https://doi.org/10.1016/S0960-8966(99)00122-4
Santoro L, Carrozzo R, Malandrini A, Piemonte F, Patrono C, Villanova M et al. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscular Disorders. 2000 Aug 1;10(6):450-453. https://doi.org/10.1016/S0960-8966(99)00122-4
Santoro, L. ; Carrozzo, R. ; Malandrini, A. ; Piemonte, F. ; Patrono, C. ; Villanova, M. ; Tessa, A. ; Palmeri, S. ; Bertini, E. ; Santorelli, F. M. / A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. In: Neuromuscular Disorders. 2000 ; Vol. 10, No. 6. pp. 450-453.
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AU - Villanova, M.

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