Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation
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
- 期刊名称Scientific Reports
- 作者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
- 卷第9卷
- 期第1期
- 电子ISSN2045-2322
- 文件大小2726.58KB
- 发表时间2019-12
- DOI10.1038/s41598-019-54041-0