Abstract | BACKGROUND: 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:
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Authors | G M Fabrizi, M Ferrarini, T Cavallaro, I Cabrini, R Cerini, L Bertolasi, N Rizzuto |
Journal | Neurology
(Neurology)
Vol. 69
Issue 3
Pg. 291-5
(Jul 17 2007)
ISSN: 1526-632X [Electronic] United States |
PMID | 17636067
(Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adult
- Axons
(metabolism, pathology)
- Charcot-Marie-Tooth Disease
(genetics, metabolism, pathology)
- Dynamin II
(genetics)
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
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