Article
Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Sept 2023
McDonald Heather M, Sadikovic Bekim, Sheldon Claire A, Bursztyn Lulu L C D
Abstract excerpt
BACKGROUND: Leber hereditary optic neuropathy (LHON) is a rare but bilaterally blinding disease. Three characteristic disease-causing point mutations, and other less common mutations, are most often found on the mitochondrially encoded genes of NADH-ubiquinone oxidoreductase core subunits (MT-ND). The purpose of this study is to provide an overview of LHON mutations in Southwestern Ontario and to describe the...
Topics
- Male
- Humans
- Female
- Optic Atrophy, Hereditary, Leber
- Ontario
- Retrospective Studies
- DNA, Mitochondrial
- Mutation