Article
Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.
Neuromuscular disorders : NMD - 1 Jul 2022
Lei Liu, Zhiqiang Lin, Xiaobo Li, Zhengmao Hu, Shunxiang Huang, Huadong Zhao, Beisha Tang, Ruxu Zhang
Abstract excerpt
Autosomal recessive Charcot-Marie-Tooth disease Type 2S (AR-CMT2S) caused by IGHMBP2 mutation was first reported in 2014, and an increasing number of cases have been reported in the past eight years. We detected 15 distinct IGHMBP2 mutations among 8 typical AR-CMT2S families in our cohort of 178 Chinese CMT2 families using Sanger sequencing and next-generation sequencing (NGS), making IGHMBP2 mutations the most...
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