Article
Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Neurology India - 1 Jan 2000
Gao Feng, Ma Fu Chan, Yuan Zhe Feng, Yang Cui Wei, Li Hai Feng, Xia Zhe Zhi, Shui Quan Xiang, Jiang Ke Wen
Abstract excerpt
Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1). To date, approximately 130 different mutations on the CLCN1 gene have been identified. However, most of the studies have focused on Caucasians, and reports on CLCN1 mutations in Chinese population are rare. This study investigated the mutation of CLCN1 in two Chinese families with MC. Direct...
Topics
- Amino Acids
- Child
- China
- Chloride Channels
- DNA Mutational Analysis
- Exons
- Family Health
- Female
- Humans
- Male
- Mutation
- Myotonia Congenita