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Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies. Recently, three CMT1-associated point mutations (I43N, T51P, and I52T) were discovered in the abundant peripheral myelin protein P2. These mutations trigger abnormal myelin structure, leading to reduced nerve conduct...

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Detalles Bibliográficos
Autores principales:	Ruskamo, Salla, Nieminen, Tuomo, Kristiansen, Cecilie K., Vatne, Guro H., Baumann, Anne, Hallin, Erik I., Raasakka, Arne, Joensuu, Päivi, Bergmann, Ulrich, Vattulainen, Ilpo, Kursula, Petri
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529448/ https://www.ncbi.nlm.nih.gov/pubmed/28747762 http://dx.doi.org/10.1038/s41598-017-06781-0

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