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Article

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

American journal of human genetics - 9 Jul 2010

Antonicka Hana, Ostergaard Elsebet, Sasarman Florin, Weraarpachai Woranontee, Wibrand Flemming, Pedersen Anne Marie B, Rodenburg Richard J, van der Knaap Marjo S, Smeitink Jan A M, Chrzanowska-Lightowlers Zofia M, Shoubridge Eric A

Abstract excerpt

We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe decreases of complexes I, IV, and V and a smaller decrease in complex III. The steady-state levels of mitochondrial...

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Identifiers

PMID: 20598281
DOI: 10.1016/j.ajhg.2010.06.004
PMCID: PMC2896764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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