[The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].

doi:10.3724/sp.j.1005.2012.01031

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Article

[The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].

Yi chuan = Hereditas - 1 Aug 2012

Zhou Hui-Hui, Dai Xian-Ning, Lin Bei, Mi Hui, Liu Xiao-Ling, Zhao Fu-Xin, Zhang Juan-Juan, Zhou Xiang-Tian, Sun Yan-Hong, Wei Qi-Ping, Qu Jia, Guan Min-Xin

Abstract excerpt

We reported here the clinical, genetic, and molecular characterization of Leber's hereditary optic neuropathy (LHON) with C5601T mutation in seven Chinese families. The ophthalmologic examinations of seven Chinese families who were clinically diagnosed LHON were conducted. Strikingly, these families exhibited very low penetrance of visual impairment, and the penetrance was 9.5%, 14.3%, 4.5%, 8.3%, 10.0%, 22.2%...

Topics

Adolescent
Adult
Animals
Asian People
Base Sequence
Cattle
Child
DNA, Mitochondrial
Female
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Mitochondria

Molecular Sequence Data

Mutation

Optic Atrophy, Hereditary, Leber

Pedigree

RNA, Transfer

Source

Open in PubMed

Identifiers

PMID: 22917908
DOI: 10.3724/sp.j.1005.2012.01031

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-22917908-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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