Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B familie...

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Bibliografische gegevens
Hoofdauteurs: Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2009
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2724916/
https://ncbi.nlm.nih.gov/pubmed/19502294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awp115
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