Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

• Main Authors: Yifan Li (Author), Mao Li (Author), Zhenfu Wang (Author), Fei Yang (Author), Hongfen Wang (Author), Xiujuan Bai (Author), Bo Sun (Author), Siyu Chen (Author), Xusheng Huang (Author)
• Format: Book
• Published: Taylor & Francis Group, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle. Our study reported the clinical and molecular characteristics of six patients with MC and systematically r...