Article
m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.
Journal of clinical pathology - 1 Jul 2014
Kodroń Agata, Krawczyński Maciej R, Tońska Katarzyna, Bartnik Ewa
Abstract excerpt
Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation...
Topics
- Adolescent
- DNA Mutational Analysis
- DNA, Mitochondrial
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation
- NADH Dehydrogenase
- Optic Atrophy, Hereditary, Leber
- Pedigree