Article
Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
Acta neurologica Scandinavica - 1 May 2006
Kuo H-C, Hsiao K-M, Chang L-I, You T-H, Yeh T-H, Huang C-C
Abstract excerpt
OBJECTIVES: Myotonia congenita (MC), caused by mutations in the muscle chloride channel (CLCN1) gene, can be inherited dominantly or recessively. The mutations at the carboxyl terminus of the CLCN1 gene have been identified in MC patients, but the functional implication of these mutations is unknown. MATERIAL AND METHODS: Direct sequencing of polymerase chain reaction products covering the whole coding region of...
Topics
- Adult
- Child
- Child, Preschool
- Chloride Channels
- Electromyography
- Exons
- Female
- Humans
- Inheritance Patterns
- Male
- Middle Aged
- Mutation
- Myotonia Congenita
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic