Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy

J Peripher Nerv Syst. 2015 Dec;20(4):415-8. doi: 10.1111/jns.12148.


Charcot-Marie-Tooth (CMT) syndromes are a group of clinically heterogeneous disorders of the peripheral nervous system. Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A). CMT2A is primarily an axonal disorder resulting in motor and sensory neuropathy. We report a male child with psychomotor delay, dysmorphic features, and weakness of lower limbs associated with electrophysiological features of severe, sensory-motor, axonal neuropathy. The patient was diagnosed with early onset CMT2A and severe psychomotor retardation associated with c.310C>T mutation (p.R104W) in MFN2 gene. CMT2A should be considered in patients with both axonal sensory-motor neuropathy and developmental delay.

Keywords: Charcot-Marie-Tooth neuropathy type 2A; MFN2; electrophysiological study; global developmental delay.

Publication types

  • Case Reports

MeSH terms

  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Child, Preschool
  • Developmental Disabilities / complications
  • Developmental Disabilities / diagnosis*
  • GTP Phosphohydrolases / genetics
  • Humans
  • Male
  • Mitochondrial Proteins / genetics
  • Mutation
  • Neurologic Examination
  • Phenotype


  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human