A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from a family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical fe...

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Publicado en:PLoS Genet
Autores principales: Hong, Young Bin, Joo, Jaesoon, Hyun, Young Se, Kwak, Geon, Choi, Yu-Ri, Yeo, Ha Kyung, Jwa, Dong Hwan, Kim, Eun Ja, Mo, Won Min, Nam, Soo Hyun, Kim, Sung Min, Yoo, Jeong Hyun, Koo, Heasoo, Park, Hwan Tae, Chung, Ki Wha, Choi, Byung-Ok
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2016
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4735456/
https://ncbi.nlm.nih.gov/pubmed/26828946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005829
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