Article
Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.
American journal of medical genetics - 15 Dec 2001
Brown M D, Allen J C, Van Stavern G P, Newman N J, Wallace D C
Abstract excerpt
Four mitochondrial DNA (mtDNA) mutations at nps 3460, 11778, 14484, and 14459 account for roughly 90% of cases of Leber hereditary optic neuropathy (LHON) and are designated as "primary" LHON mutations since they act as major predisposition factors for LHON. Although each primary mutation can arise independently on different mtDNA backgrounds during human evolution, they characteristically do not co-occur in LHON...
Topics
- Cell Line
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Humans
- Mitochondria
- Mutation
- Optic Atrophy, Hereditary, Leber
- Oxidative Phosphorylation
- Polymorphism, Restriction Fragment Length