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Systematic review of CMTX1 patients with episodic neurological dysfunction

OBJECTIVE: X‐linked Charcot‐Marie‐Tooth type 1 (CMTX1) is an inherited peripheral neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene, which encodes the connexin32 protein. A small number of patients with GJB1 mutations present with episodic neurological dysfunction and reversible...

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Detalles Bibliográficos
Autores principales:	Tian, Dandan, Zhao, Yating, Zhu, Ruixia, Li, Qu, Liu, Xu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818278/ https://www.ncbi.nlm.nih.gov/pubmed/33314704 http://dx.doi.org/10.1002/acn3.51271

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