Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

J Neuroophthalmol. 2022 Mar 1;42(1):e381-e384. doi: 10.1097/WNO.0000000000001404. Epub 2021 Dec 16.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Charcot-Marie-Tooth Disease* / complications
  • Charcot-Marie-Tooth Disease* / diagnosis
  • Charcot-Marie-Tooth Disease* / genetics
  • GTP Phosphohydrolases / genetics
  • Humans
  • Mitochondrial Proteins / genetics
  • Mutation
  • Phenotype

Substances

  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human