Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2
Abstract 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 nerv...
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Main Authors: | Salla Ruskamo, Tuomo Nieminen, Cecilie K. Kristiansen, Guro H. Vatne, Anne Baumann, Erik I. Hallin, Arne Raasakka, Päivi Joensuu, Ulrich Bergmann, Ilpo Vattulainen, Petri Kursula |
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Format: | article |
Language: | EN |
Published: |
Nature Portfolio
2017
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Online Access: | https://doaj.org/article/84b4f0e7f79a44c780fb0a432945a2ca |
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