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Article

Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.

PloS one - 18 Oct 2010

Yu Dandan, Jia Xiaoyun, Zhang A-Mei, Li Shiqiang, Zou Yang, Zhang Qingjiong, Yao Yong-Gang

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON, MIM 535000) is one of the most common mitochondrial genetic disorders caused by three primary mtDNA mutations (m.3460G>A, m.11778G>A and m. 14484T>C). The clinical expression of LHON is affected by many additional factors, e.g. mtDNA background, nuclear genes, and environmental factors. Hitherto, there is no comprehensive study of Chinese LHON patients with...

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PMID: 20976138
DOI: 10.1371/journal.pone.0013426
PMCID: PMC2956641

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Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.PMID 20976138Read ↗

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