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Article

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy.

Neurogenetics - 1 Jul 2010

Yu Dandan, Jia Xiaoyun, Zhang A-Mei, Guo Xiangming, Zhang Ya-Ping, Zhang Qingjiong, Yao Yong-Gang

Abstract excerpt

The primary mutation m.3460G>A occurs with a very low frequency (approximately 1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G>A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON...

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Identifiers

PMID: 20232220
DOI: 10.1007/s10048-010-0236-7

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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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