Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy

J Neurol. 2015 Dec;262(12):2776-9. doi: 10.1007/s00415-015-7955-5. Epub 2015 Nov 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • DNA, Mitochondrial / genetics*
  • Humans
  • Male
  • Mutation
  • NADH Dehydrogenase / genetics*
  • Optic Atrophy, Hereditary, Leber / diagnosis*
  • Optic Atrophy, Hereditary, Leber / drug therapy
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Ubiquinone / analogs & derivatives
  • Ubiquinone / therapeutic use

Substances

  • DNA, Mitochondrial
  • Ubiquinone
  • MT-ND6 protein, human
  • NADH Dehydrogenase
  • idebenone