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Article

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Jun 2026

Jia Yiran, Huang Zhiqin, Chen Chunli, Chen Fred K, Jiang Libin

Abstract excerpt

BACKGROUND: C12orf65 (chromosome 12 open reading frame 65) gene encodes a mitochondrial matrix protein essential for the release of newly synthesized proteins from mitochondrial ribosomes. Biallelic pathogenic variants result in loss of function in the protein complex necessary for oxidative phosphorylation. Pathogenic C12orf65 variants have been associated with various inherited neurological diseases, including...

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Identifiers

PMID: 40993840
DOI: 10.1097/WNO.0000000000002378

Genes

OPA1

Variants

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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