Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation

J Neurol Sci. 2011 Aug 15;307(1-2):168-70. doi: 10.1016/j.jns.2011.04.025. Epub 2011 May 20.


Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features. Generally patients with an early onset CMT2A disclose a severe phenotype while the cases with a late onset present a more benign clinical course. We describe clinical, electrophysiological and pathological findings of a patient with a mild CMT2A due to the c.2213C>T, p.Ala738Val MFN2 mutation. This mutation has been already described to be only associated with an early onset and moderately severe CMT2A phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alanine / genetics
  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / pathology
  • Charcot-Marie-Tooth Disease* / physiopathology
  • Electrodiagnosis / methods
  • Female
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Mitochondrial Proteins / genetics*
  • Neural Conduction / genetics
  • Point Mutation / genetics*
  • Sural Nerve / pathology*
  • Sural Nerve / physiopathology*
  • Valine / genetics


  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human
  • Valine
  • Alanine