Novel Mutations in the ND5 Gene Associated With Leber Hereditary Optic Neuropathy

J Neuroophthalmol. 2024 Jun 1;44(2):e227-e229. doi: 10.1097/WNO.0000000000001796. Epub 2023 Jan 4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex I / genetics
  • Female
  • Humans
  • Male
  • Mitochondrial Proteins
  • Mutation*
  • Optic Atrophy, Hereditary, Leber* / diagnosis
  • Optic Atrophy, Hereditary, Leber* / genetics
  • Pedigree

Substances

  • MT-ND5 protein, human
  • Electron Transport Complex I
  • DNA, Mitochondrial
  • Mitochondrial Proteins