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...

Descripción completa

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

Internet

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

Ejemplares similares