A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

oleh: Liang-Liang Qiu, Xiao-Dan Lin, Guo-Rong Xu, Li-Li Wang, Zhi-Xian Ye, Feng Lin, Hai-Zhu Chen, Min-Ting Lin, Nai-Qing Cai, Ming Jin, Liu-Qing Xu, Wei Hu, Ning Wang, Zhi-Qiang Wang, Li-Shao Guo