Article
A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.
Molecular genetics & genomic medicine - 1 Mar 2023
Li MeiYi, Yin Minna, Yang Li, Chen Zhiheng, Du Peng, Sun Ling, Chen Juan
Abstract excerpt
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 study, the probands and his mother underwent electrophysiological examinations and other family members were...
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