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 t...
Topics
- Asian People
- DNA, Mitochondrial
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Optic Atrophy, Hereditary, Leber
- Pedigree
- Penetrance
- Point Mutation
- Sex Factors