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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
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Original Articles
Accés en línia: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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