Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.

doi:10.1167/iovs.13-13011

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Article

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.

Investigative ophthalmology & visual science - 6 Mar 2014

Liang Min, Jiang Pingping, Li Feng, Zhang Juanjuan, Ji Yanchun, He Yiqun, Xu Meifen, Zhu Jinping, Meng Xiangjuan, Zhao Fuxin, Tong Yi, Liu Xiaoling, Sun Yanhong, Zhou Xiangtian, Mo Jun Qin, Qu Jia, Guan Min-Xin

Abstract excerpt

PURPOSE: To investigate the molecular pathogenesis of Leber's hereditary optic neuropathy (LHON) in Chinese families. METHODS: A cohort of 1218 Han Chinese subjects with LHON and 316 control subjects underwent the clinical and genetic evaluation and molecular analysis of mitochondrial (mt)DNA. RESULTS: The age at onset of optic neuropathy in these subjects ranged from 5 to 55 years, with the average of 18 years....

Topics

Adolescent
Adult
Age of Onset
Child
Child, Preschool
China
DNA Mutational Analysis
DNA, Mitochondrial
Female
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Humans

Incidence

Male

Middle Aged

Mitochondria

Mutation

NADH Dehydrogenase

Source

Open in PubMed

Identifiers

PMID: 24398099
DOI: 10.1167/iovs.13-13011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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