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

ConclusionOur findings demonstrate that a novel mutation (c.605T>A) inGJB1 is associated with CMTX and adds to the repertoire ofGJB1 mutations related to CMTX.

Source: Molecular Genetics & Genomic Medicine - January 13, 2020 Category: Genetics & Stem Cells Authors: Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu Tags: ORIGINAL ARTICLE Source Type: research