Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot–Marie–Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). The MPZ role in the pathogenesis of both demyelinating and axonal inherited neuropathie...

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Autors principals: Mandich, Paola, Fossa, Paola, Capponi, Simona, Geroldi, Alessandro, Acquaviva, Massimo, Gulli, Rossella, Ciotti, Paola, Manganelli, Fiore, Grandis, Marina, Bellone, Emilia
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986589/
https://ncbi.nlm.nih.gov/pubmed/19293842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.37
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