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The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.

Biochemical and biophysical research communications - 20 Aug 2010

Zou Yang, Jia Xiaoyun, Zhang A-Mei, Wang Wen-Zhi, Li Shiqiang, Guo Xiangming, Kong Qing-Peng, Zhang Qingjiong, Yao Yong-Gang

Abstract excerpt

LHON is one of the most common and primary causes of acute blindness in young male adults. Over 95% of LHON cases are caused by one of the three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). In contrast to these genetically diagnosed LHON patients, there are many patients with clinical features of LHON but without the three primary mutations, and these patients have been insufficiently analyzed. We...

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PMID: 20643099
DOI: 10.1016/j.bbrc.2010.07.051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.PMID 20643099Read ↗

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