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

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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Detalhes bibliográficos
Principais autores: Young Bin Hong, Jaesoon Joo, Young Se Hyun, Geon Kwak, Yu-Ri Choi, Ha Kyung Yeo, Dong Hwan Jwa, Eun Ja Kim, Won Min Mo, Soo Hyun Nam, Sung Min Kim, Jeong Hyun Yoo, Heasoo Koo, Hwan Tae Park, Ki Wha Chung, Byung-Ok Choi
Formato: Artigo
Idioma:English
Publicado em: Public Library of Science (PLoS) 2016-02-01
coleção:PLoS Genetics
Acesso em linha:http://europepmc.org/articles/PMC4735456?pdf=render

Internet

http://europepmc.org/articles/PMC4735456?pdf=render

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