Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

BACKGROUND: The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). CASE PRESENTATION: Three young male patients from Southern China with pes cavus experienced multiple episod...

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Detalles Bibliográficos
Autores principales: Liang, Youlong, Liu, Jingli, Cheng, Daobin, Wu, Yu, Mo, Liuhong, Huang, Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912941/
https://www.ncbi.nlm.nih.gov/pubmed/31842800
http://dx.doi.org/10.1186/s12883-019-1563-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912941/
https://www.ncbi.nlm.nih.gov/pubmed/31842800
http://dx.doi.org/10.1186/s12883-019-1563-4

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