Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy

J Neuroophthalmol. 2020 Dec;40(4):566-568. doi: 10.1097/WNO.0000000000000973.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics*
  • Humans
  • Mutation*
  • NADH Dehydrogenase / genetics*
  • NADH Dehydrogenase / metabolism
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Atrophy, Hereditary, Leber / metabolism
  • Young Adult

Substances

  • DNA, Mitochondrial
  • MT-ND6 protein, human
  • NADH Dehydrogenase
  • Electron Transport Complex IV
  • cytochrome c oxidase subunit I, human