Article
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Clinical genetics - 1 Jun 2017
Liu L, Li X B, Hu Z H M, Zi X H, Zhao X, Xie Y Z, Huang S H X, Xia K, Tang B S, Zhang R X
Abstract excerpt
The aim of this study is to explore the phenotypic and genotypic features of X-linked Charcot-Marie-Tooth (CMT) disease in the mainland of China and to study the cellular effects of six novel Gap junction protein beta-1 variants. We identified 25 missense and 1 non-sense mutations of GJB1 in 31 unrelated families out of 226 CMT families. The frequency of GJB1 mutations was 13.7% of the total and 65% of...
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