Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

• Κύριοι συγγραφείς: Chaoping Hu (Συγγραφέας), Yiyun Shi (Συγγραφέας), Lei Zhao (Συγγραφέας), Shuizhen Zhou (Συγγραφέας), Xihua Li (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of MC patients in China.Patients and Methods: Fi...