A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.
作者信息
Qiu Liang-Liang, Lin Xiao-Dan, Xu Guo-Rong, Wang Li-Li, Ye Zhi-Xian, Lin Feng, Chen Hai-Zhu, Lin Min-Ting, Cai Nai-Qing, Jin Ming, Xu Liu-Qing, Hu Wei, Wang Ning, Wang Zhi-Qiang
机构信息
Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
出版信息
Chin Med J (Engl). 2021 Mar 23;134(22):2753-2755. doi: 10.1097/CM9.0000000000001425.
Abstract
摘要
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