Article
Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.
Biochemical and biophysical research communications - 21 Aug 2009
Zhang A-Mei, Zou Yang, Guo Xiangming, Jia Xiaoyun, Zhang Qingjiong, Yao Yong-Gang
Abstract excerpt
Leber hereditary optic neuropathy (LHON) was the first disease to be linked to the presence of a mitochondrial DNA (mtDNA) mutation. Nowadays over 95% of LHON cases are known to be caused by one of three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). Reports for other (rare) primary mutations in LHON patients are not infrequent. Among those is the mutation m.3635G>A in the MT-ND1 gene which was...
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