A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

BACKGROUND: Charcot–Marie–Tooth (CMT) disease is a group of hereditary neuropathies with high phenotypic and genetic heterogeneity. In this study, we report a large family with X‐linked CMT (CMTX) caused by a novel GJB1 mutation. METHODS: A family with the clinical diagnosis of CMTX was investigated...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Yingdi, Xue, Jinjie, Li, Zhuo, Linpeng, Siyuan, Tan, Hu, Teng, Yanling, Liang, Desheng, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057093/
https://www.ncbi.nlm.nih.gov/pubmed/31943912
http://dx.doi.org/10.1002/mgg3.1127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057093/
https://www.ncbi.nlm.nih.gov/pubmed/31943912
http://dx.doi.org/10.1002/mgg3.1127

Ejemplares similares