| 본문 : Leber's hereditary optic neuropathy (LHON) is a progressive optic neuropathy characterized by bilateral, painless subacute central vision loss that develops during young adulthood. Most LHON cases are caused by the three common mutations in mitochondrial DNA (mtDNA), m.3460G>A (MT-ND1), m.11778A>G (MT-ND4), or m.14484T>C (MT-ND6). Fourteen additional primary mtDNA mutations including m.4171 (MT-ND1) identified in 2 Korean LHON families, as well as 17 candidate mutations have been reported. We sequenced thewhole mitochondrial genomes of 1 patientwhowas negative for 4 primary LHONmutations, and identified a novel mitochondrial
DNA G13259A mutation in the ND5 gene in one Korean familywith presumed LHON. |