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Article

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.

Human molecular genetics - 1 Aug 2010

Yu-Wai-Man Patrick, Sitarz Kamil S, Samuels David C, Griffiths Philip G, Reeve Amy K, Bindoff Laurence A, Horvath Rita, Chinnery Patrick F

Abstract excerpt

Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop more severe neuromuscular complications, an important disease subgroup known as DOA(+). Cytochrome c oxidase (COX)-negative fibres and multiple mitochondrial DNA...

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Source

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Identifiers

PMID: 20484224
DOI: 10.1093/hmg/ddq209
PMCID: PMC2901142

Genes

OPA1

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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