Article
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Human molecular genetics - 1 Oct 1998
Kubisch C, Schmidt-Rose T, Fontaine B, Bretag A H, Jentsch T J
Abstract excerpt
Mutations in the ClC-1 muscle chloride channel cause either recessive or dominant myotonia congenita. Using a systematic screening procedure, we have now identified four novel missense mutations in dominant (V286A, F307S) and recessive myotonia (V236L, G285E), and have analysed the effect of thes...
Topics
- Amino Acid Sequence
- Animals
- Chloride Channels
- DNA Mutational Analysis
- Electrophysiology
- Female
- Genes, Dominant
- Genes, Recessive
- Humans
- Molecular Sequence Data
- Muscle Proteins
- Mutagenesis, Site-Directed
- Mutation
- Myotonia Congenita
- Oocytes
- Recombinant Proteins