Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease

Sun, SC; Ma, D; Li, MY; Zhang, RX; Huang, C; Huang, HJ; Xie, YZ; Wang, ZJ; Liu, J; Cai, DC; Liu, CX; Yang, Q; Bao, FX; Gong, XL; Li, JR; Hui, Z; Wei, XF; Zhong, JM; Zhou, WJ; Shang, X; Zhang, C; Liu, XG; Tang, BS; Xiong, F; Xu, XM

Xiong, F; Xu, XM (reprint author), Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China.; Xu, XM (reprint author), Guangdong Hong Kong Macao Greater Bay Area Ctr Br, Guangzhou 510515, Guangdong, Peoples R China.; Xu,

BRAIN, 2019; 142 (): 2215

Abstract

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy exhibiting great clinical and genetic heterogeneity. Here, the identification......

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