Article
Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.
The Journal of physiology - 15 Aug 1995
Mitrović N, George A L, Lerche H, Wagner S, Fahlke C, Lehmann-Horn F
Abstract excerpt
1. Three mutations at the same site in the inactivation gate of the alpha-subunit of the human muscle Na+ channel, G1306E, G1306V and G1306A, cause three phenotypes of K(+)-aggravated myotonia: G1306E as the most severe and G1306A as the most benign form. 2. Recombinant wildtype (WT) and mutant (G1306E, G1306V and G1306A) human Na+ channels were expressed in human embryonic kidney cells (HEK293). G1306E and...
Topics
- Base Sequence
- Cell Line
- Genotype
- Humans
- Ion Channel Gating
- Molecular Sequence Data
- Muscles
- Mutation
- Myotonia
- Oligonucleotide Probes
- Phenotype