Article
Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
Biochemical and biophysical research communications - 20 Nov 2009
Zhao Fuxin, Guan Minqiang, Zhou Xiangtian, Yuan Meixia, Liang Ming, Liu Qi, Liu Yan, Zhang Yongmei, Yang Li, Tong Yi, Wei Qi-Ping, Sun Yan-Hong, Qu Jia, Guan Min-Xin
Abstract excerpt
We report here the clinical, genetic, and molecular characterization of three Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age of onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Asian People
- Child, Preschool
- Female
- Humans
- Male
- Mitochondria
- Molecular Sequence Data
- Mutation
- NADH Dehydrogenase
- Optic Atrophy, Hereditary, Leber