A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease

BACKGROUND: Charcot–Marie–Tooth (CMT) disease is the most frequent hereditary motor sensory neurological disease. GJB1 gene is the second most frequent cause of CMT, accounting for approximately 10% of CMT cases worldwide. We identified a large Han family with X‐linked CMT disease. METHODS: In this...

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Detalles Bibliográficos
Autores principales: Li, MeiYi, Yin, Minna, Yang, Li, Chen, Zhiheng, Du, Peng, Sun, Ling, Chen, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009907/
https://www.ncbi.nlm.nih.gov/pubmed/36394156
http://dx.doi.org/10.1002/mgg3.2108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009907/
https://www.ncbi.nlm.nih.gov/pubmed/36394156
http://dx.doi.org/10.1002/mgg3.2108

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