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Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.

Ophthalmology - 1 May 2011

Liu Xiao-Ling, Zhou Xiangtian, Zhou Jian, Zhao Fuxin, Zhang Juanjuan, Li Chengwu, Ji Yanchun, Zhang Yu, Wei Qi-Ping, Sun Yan-Hong, Yang Li, Lin Bing, Yuan Yumin, Li Yingzi, Qu Jia, Guan Min-Xin

Abstract excerpt

PURPOSE: To investigate the molecular pathogenesis of Leber's hereditary optic neuropathy (LHON) in Chinese families. DESIGN: Six Han Chinese families who seem to have maternally transmitted LHON were studied by clinical, genetic, and molecular evaluations. PARTICIPANTS: One hundred twenty-seven subjects from 6 Chinese families with a wide range of age-at-onset and severity of visual impairment. METHODS: All...

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PMID: 21131053
DOI: 10.1016/j.ophtha.2010.09.003

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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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Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.PMID 21131053Read ↗

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