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Article

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

Journal of human genetics - 1 Jul 2009

Sacconi Sabrina, Salviati Leonardo, Trevisson Eva

Abstract excerpt

Isolated cytochrome c oxidase (COX) deficiency (MIM#220110) is a relatively common biochemical finding in pediatric patients with mitochondrial disorder. It has been associated with different clinical phenotypes ranging from isolated myopathy to severe multisystem disorder. It is a genetically heterogeneous trait, and the most frequent genetic defects affect SURF1 and SCO2, two genes required for COX assembly....

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Source

Identifiers

PMID: 19373256
DOI: 10.1038/jhg.2009.36

Genes

COX18
SCO2
SURF1
COX10
COX15
SCO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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