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

From the Section of Clinical Neurology, Department of Neurological and Visual Sciences (G.M.F., M.F., T.C., I.C., L.B., N.R.), and Section of Radiology, Department of Morphological and Biomedical Sciences (R.C.), University of Verona, Italy.

Address correspondence and reprint requests to Dr. Gian Maria Fabrizi, Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona. Policlinico "G.B. Rossi," P. le L.A. Scuro 10, 37134 Verona, Italy

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.

gianmaria.fabrizi{at}univr.it

Supplemental data at www.neurology.org

Supported by MIUR (grant no. 2005060584 to N.R.), Fondazione Mariani (grant 2005-2007 to N.R.), Telethon-Italy (grant no. GUP04009 to G.M.F.), and Fondazione CariVerona (grant 2005-2007 to N.R.).

Disclosure: The authors report no conflicts of interest.

Received December 22, 2006. Accepted in final form February 23, 2007.

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