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Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited neuropathies. The purpose of this study is to identify the clinical and genetic diversity of peripheral myelin protein 22 (PMP22) in Chinese patients with CMT disease and evaluate their correlations wi...

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Detalles Bibliográficos
Autores principales: Liu, Xiaoxuan, Duan, Xiaohui, Zhang, Yingshuang, Fan, Dongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7347970/
https://www.ncbi.nlm.nih.gov/pubmed/32719652
http://dx.doi.org/10.3389/fneur.2020.00630