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...

Descripción completa

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

Internet

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

Ejemplares similares