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Article

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Molecular vision - 1 Jan 2008

Li Yang, Deng Ting, Tong Yi, Peng Shuling, Dong Bing, He Dacheng

Abstract excerpt

PURPOSE: To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA). METHODS: Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed consent was obtained, peripheral blood samples of all the participants were obtained, and genomic DNA was extracted....

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Source

Open in PubMed Open full text

Identifiers

PMID: 19112530
PMCID: PMC2610289

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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