Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)

J Neuromuscul Dis. 2019;6(2):259-261. doi: 10.3233/JND-190384.


Mutations in MFN2 cause a range of Charcot-Marie-Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) mutation in MFN2 has been reported for the first time. Here, we report a second family also with a dominantly inherited CMT harboring the same mutation, thereby confirming the pathogenicity of this mutation. Interestingly, the disease onset of this second family is much later than the previously reported cases.

Keywords: Charcot-Marie-Tooth disease; MFN2 protein; Neuromuscular diseases; genetic variation; hereditary sensory and motor neuropathy; human; pathogenicity; phenotype; type 2A.

Publication types

  • Case Reports

MeSH terms

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


  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human