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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Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5529448/
https://ncbi.nlm.nih.gov/pubmed/28747762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-06781-0
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