Article
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
Investigative ophthalmology & visual science - 1 Feb 2006
Qu Jia, Li Ronghua, Zhou Xiangtian, Tong Yi, Lu Fan, Qian Yaping, Hu Yongwu, Mo Jun Qin, West Constance E, Guan Min-Xin
Abstract excerpt
PURPOSE: To investigating the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy (LHON) associated with the ND4 G11778A mutation in Chinese families. METHODS: A three-generation Chinese family with LHON was studied by clinical and genetic evaluation as well as molecular and biochemical analysis of mitochondrial (mt)DNA. RESULTS: This family exhibits a high penetrance and...
Topics
- Adolescent
- Adult
- Age of Onset
- Asian People
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Humans
- Male
- Middle Aged
- Mitochondria
- Mutation
- Optic Atrophy, Hereditary, Leber