换一批摘要Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping.MC is caused by mutations in the skeletal muscle chloride channel gene (CLCN1 [OMIM 118425]) and the skeletal muscle sodium channel gene(SCN4A[OMIM 603967]).
更多相关知识
栏目名称
DOI
10.4103/0366-6999.225061
发布时间
2018-04-03（万方平台首次上网日期，不代表论文的发表时间）
基金项目
grants from the National Natural Science Foundation of China（81571086 and 81600978）；
National Key R and D Program of China（2016YFC1305804）
- 浏览18
- 被引1
- 下载8
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
