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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Sci Rep
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group UK 2017
विषय:
Article
ऑनलाइन पहुंच: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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