Clinical and genetic characteristics of myotonia congenita in Chinese population

• Main Authors: Yuting He (Author), Yusen Qiu (Author), Ying Xiong (Author), Yu Shen (Author), Kaiyan Jiang (Author), Hancun Yi (Author), Pengcheng Huang (Author), Yu Zhu (Author), Min Zhu (Author), Meihong Zhou (Author), Daojun Hong (Author), Dandan Tan (Author)
• Format: Book
• Published: Taylor & Francis Group, 2024-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ABSTRACTMyotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC). The clinical data and auxiliary examinations of MC patien...