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Article

[Leber's hereditary optic neuropathy may be associated with the mitochondrial tRNAGlu A14693G mutation in three Chinese families].

Yi chuan = Hereditas - 1 Apr 2010

Zhang Yong-Mei, Ji Yan-Chun, Liu Xiao-Ling, Zhou Xiang-Tian, Zhao Fu-Xin, Sun Yan-Hong, Wei Qi-Ping, Zhang Juan-Juan, Liu Yan, Qu Jia, Guan Min-Xin

Abstract excerpt

We reported here the clinical, genetic and molecular characterization of three Han Chinese families with Leber's hereditary optic neuropathy. Ophthalmologic examinations revealed the variable severity and age-at-onset of visual loss among probands and other matrilineal relatives of these families. Strikingly, these families exhibited extremely low penetrances of visual impairment. Sequence analysis of complete...

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PMID: 20423889
DOI: 10.3724/sp.j.1005.2010.00353

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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