Article
K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.
The Journal of physiology - 1 Aug 1994
Mitrović N, George A L, Heine R, Wagner S, Pika U, Hartlaub U, Zhou M, Lerche H, Fahlke C, Lehmann-Horn F
Abstract excerpt
1. Wild type (WT) and V1589M channels were expressed in human embryonic kidney (HEK293) cells for the study of the pathophysiology of the V1589M muscle Na+ channel mutation leading to K(+)-aggravated myotonia. 2. In comparison to WT, whole-cell recordings with V1589M channels showed an increased Na+ steady-state to peak current ratio (Iss/Ipeak) (3.15 +/- 0.70 vs. 0.87 +/- 0.10%, at -15 mV) and a significantly...
Topics
- Cell Line
- Electrophysiology
- Humans
- Kidney
- Muscles
- Mutagenesis
- Mutation
- Myotonia
- Potassium
- Sodium Channels
- Transfection