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Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

BACKGROUND: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patien...

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Detalles Bibliográficos
Autores principales: Lu, Yuan-Yuan, Lyu, He, Jin, Su-Qin, Zuo, Yue-Huan, Liu, Jing, Wang, Zhao-Xia, Zhang, Wei, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421174/
https://www.ncbi.nlm.nih.gov/pubmed/28469099
http://dx.doi.org/10.4103/0366-6999.204925