Article
A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy.
Jinrui idengaku zasshi. The Japanese journal of human genetics - 1 Jun 1991
Fujiki K, Hotta Y, Hayakawa M, Saito K, Ara F, Ueda S, Goto T, Ishida M, Yanashima K, Shiono T
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by optic nerve degeneration associated with severe bilateral visual loss in young men and occasionally in women. A mitochondrial DNA (mtDNA) replacement mutation in LHON patient, G to A transition at nucleo...
Topics
- Asian People
- Base Sequence
- DNA, Mitochondrial
- Female
- Humans
- Japan
- Male
- Molecular Sequence Data
- Mutation
- NADH Dehydrogenase
- Optic Atrophies, Hereditary
- Polymorphism, Restriction Fragment Length