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.