Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation
一名患有肌强直的患者,其S4精氨酸残基发生突变,并伴有低钾性周期性麻痹和同义CLCN1突变。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-019-54041-0
Thor, Michael G; Vivekanandam, Vinojini; Sampedro-Castañeda, Marisol; Tan, S Veronica; Suetterlin, Karen; Sud, Richa; Durran, Siobhan; Schorge, Stephanie; Kullmann, Dimitri M; Hanna, Michael G; Matthews, Emma; Männikkö, Roope