Ontology highlight
ABSTRACT:
SUBMITTER: Berardo A
PROVIDER: S-EPMC7362294 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Berardo Andres A Emmanuele Valentina V Vargas Wendy W Tanji Kurenai K Naini Ali A Hirano Michio M
Journal of neurology 20191127 3
Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA "common" point mutations: m.3460G>A, m.11778G>A, or m.14484T>C, which are all in genes encoding structural subunits of complex I of the respiratory chain. Intriguing features of LHON include: incomplete penetrance, tissue specificity, and male predominance, indicating ...[more]