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Article

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.

Journal of translational medicine - 9 Mar 2012

Zhang A-Mei, Jia Xiaoyun, Guo Xiangming, Zhang Qingjiong, Yao Yong-Gang

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender biased and incomplete penetrance. The majority of LHON patients are caused by one of the three primary mutations (m.3460G > A, m.11778G > A and m.14484T > C). Rare pathogenic mutations have been occasionally reported in LHON patients. METHODS: We screened mutation m.10680G > A in the MT-ND4L gene in 774 Chinese patients...

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Identifiers

PMID: 22400981
DOI: 10.1186/1479-5876-10-43
PMCID: PMC3372436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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