Article
Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy.
Investigative ophthalmology & visual science - 23 Oct 2014
Yum Hae Ri, Chae Hyojin, Shin Sun Young, Kim Yonggoo, Kim Myungshin, Park Shin Hae
Abstract excerpt
PURPOSE: To identify the spectrum of pathogenic mitochondrial DNA (mtDNA) mutations and clinical features in Korean patients with genetically confirmed Leber's hereditary optic neuropathy (LHON). METHODS: The medical records of 34 unrelated, genetically confirmed LHON patients were reviewed. Total genomic DNA was isolated from the peripheral blood leukocytes of the patients with suspected LHON, and primary or...
Topics
- Aged
- Asian People
- Color Perception
- DNA, Mitochondrial
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Mutation
- Nerve Fibers
- Optic Atrophy, Hereditary, Leber
- Republic of Korea
- Sequence Analysis, DNA