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

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

Abstract 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 I...

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Bibliographic Details
Main Authors: MeiYi Li, Minna Yin, Li Yang, Zhiheng Chen, Peng Du, Ling Sun, Juan Chen
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Charcot–Marie–tooth disease
genetic counseling
GJB1
novel mutation
Online Access:https://doi.org/10.1002/mgg3.2108

Internet

https://doi.org/10.1002/mgg3.2108

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