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Article

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.

Biochemical and biophysical research communications - 23 Mar 2012

Zhang Juanjuan, Yuan Yimin, Lin Bing, Feng Hao, Li Yan, Dai Xianning, Zhou Huihui, Dong Xujie, Liu Xiao-Ling, Guan Min-Xin

Abstract excerpt

A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9years. A new heterozygous mutation c.C1198G was identified by...

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Source

Identifiers

PMID: 22382025
DOI: 10.1016/j.bbrc.2012.02.073

Genes

OPA1

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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