A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

Acta Myol. 2013 Dec;32(3):166-9.


Charcot-Marie-Tooth type 2A disease (CMT2A) caused by mutations in the Mitofusin 2 gene (Mfn2) has been shown to be an early-onset axonal neuropathy with severe clinical course in the majority of the patients. In this study we present a unique phenotype of CMT2A disease characterized by late-onset polyneuropathy with a very mild clinical course. This rare form of CMT2A disease is caused by a new splice-site (c.311+1G>T) mutation within the MFN2 gene. Due to disturbance of the MFN2 splicing process, this mutation generates a short transcript which encodes a very short fragment of MFN2 protein. The c.311+1G>T mutation within the MFN2 gene results in the late -onset CMT2 disease.

Keywords: Charcot-Marie-Tooth disease; Mitofusin 2; late-onset polyneuropathy; splice-site mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • GTP Phosphohydrolases / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mutation
  • Phenotype
  • Poland
  • RNA Splice Sites / genetics


  • Mitochondrial Proteins
  • RNA Splice Sites
  • GTP Phosphohydrolases
  • MFN2 protein, human

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2A