A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.


Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2," and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.

Keywords: CMT; Charcot-Marie-Tooth disease; neuropathy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mutation, Missense
  • Pedigree


  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2A