Article
Mutations in COMP cause familial carpal tunnel syndrome.
Nature communications - 20 Jul 2020
Li Chunyu, Wang Ni, Schäffer Alejandro A, Liu Xilin, Zhao Zhuo, Elliott Gene, Garrett Lisa, Choi Nga Ting, Wang Yueshu, Wang Yufa, Wang Cheng, Wang Jin, Chan Danny, Su Peiqiang, Cui Shusen, Yang Yingzi, Gao Bo
Abstract excerpt
Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome, affecting a large proportion of the general population. Genetic susceptibility has been implicated in CTS, but the causative genes remain elusive. Here, we report the identification of two mutations in cartilage oligomeric matrix protein (COMP) that segregate with CTS in two large families with or without multiple epiphyseal...
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