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Article

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 May 2005

Monnot S, Chabrol B, Cano A, Pellissier J F, Collignon P, Montfort M F, Paquis-Flucklinger V

Abstract excerpt

Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency. We report a homozygous splice site deletion [516-2_516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient Leigh syndrome. Identification of molecular defect is indispensable for genetic counselling and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15885549
DOI: 10.1016/j.arcped.2005.01.019

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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