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Article

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

Journal of medical genetics - 1 May 2005

Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M

Abstract excerpt

BACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal...

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Source

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Identifiers

PMID: 15863660
DOI: 10.1136/jmg.2004.029926
PMCID: PMC1736058

Genes

COX15
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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Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.PMID 15863660Read ↗

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