Objective:
To investigate the clinical features and CLCN1 gene mutation in three families with Myotonia Congenita.
Methods:
Clinical data collected from 8 patients in three Myotonia Congenital families were summarized. Genomic DNAs were extracted from peripheral blood of family members and 100 normal controls. The coding regions of CLCN1 were analyzed according to polymerase chain reaction (PCR) and DNA sequencing.
Results:
All patients from three Myotonia Congenita families showed ...
| 
点击下列相关研究机构和相关文献作者，可以直接查到这些机构和作者被《中国知识资源总库》收录的其它文献，使您全面了解该机构和该作者的研究动态和历史。
