Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

Neurology. 2007 Jul 17;69(3):291-5. doi: 10.1212/01.wnl.0000265820.51075.61.


Background: Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B.

Objective: To assess the etiologic role of DNM2 in CMT.

Methods: We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes.

Results: We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy.

Conclusion: Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology.

Publication types

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

MeSH terms

  • Adult
  • Axons / metabolism
  • Axons / pathology*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / metabolism*
  • Charcot-Marie-Tooth Disease / pathology
  • Dynamin II / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree


  • Dynamin II