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Neurology. 2007 Jul 17;69(3):291-5.

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

Author information

  • 1Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Verona, Italy. gianmaria.fabrizi@univr.it

Abstract

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.

PMID:
17636067
[PubMed - indexed for MEDLINE]
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