Article
Mitochondrial DNA Variation of Leber's Hereditary Optic Neuropathy in Western Siberia.
Cells - 4 Dec 2019
Starikovskaya Elena, Shalaurova Sofia, Dryomov Stanislav, Nazhmidenova Azhar, Volodko Natalia, Bychkov Igor, Mazunin Ilia, Sukernik Rem
Abstract excerpt
Our data first represent the variety of Leber's hereditary optic neuropathy (LHON) mutations in Western Siberia. LHON is a disorder caused by pathogenic mutations in mitochondrial DNA (mtDNA), inherited maternally and presents mainly in young adults, predominantly males. Clinically, LHON manifest...
Topics
- Adult
- DNA, Mitochondrial
- Female
- Humans
- Male
- Mutation
- Optic Atrophy, Hereditary, Leber
- Polymorphism, Single Nucleotide
- Siberia
