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

35 Citations (Scopus)

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.
@article{c7b01b8f10414236a15b6ff27c5bef9d,
title = "A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency",
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.",
keywords = "Cytochrome c oxidase deficiency, Leigh syndrome, Peripheral neuropathy",
author = "L. Santoro and R. Carrozzo and A. Malandrini and F. Piemonte and C. Patrono and M. Villanova and A. Tessa and S. Palmeri and E. Bertini and Santorelli, {F. M.}",
year = "2000",
month = "8",
day = "1",
doi = "10.1016/S0960-8966(99)00122-4",
language = "English",
volume = "10",
pages = "450--453",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "6",

}

TY - JOUR

T1 - A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

AU - Santoro, L.

AU - Carrozzo, R.

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.

PY - 2000/8/1

Y1 - 2000/8/1

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

UR - http://www.scopus.com/inward/record.url?scp=17444437997&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=17444437997&partnerID=8YFLogxK

U2 - 10.1016/S0960-8966(99)00122-4

DO - 10.1016/S0960-8966(99)00122-4

M3 - Article

VL - 10

SP - 450

EP - 453

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 6

ER -

Access to Document