Article
Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
Pflugers Archiv : European journal of physiology - 1 Oct 1998
Fleischhauer R, Mitrovic N, Deymeer F, Lehmann-Horn F, Lerche H
Abstract excerpt
The F1473S mutation of the adult human skeletal muscle Na+ channel causes paramyotonia congenita, a disease characterized by muscle stiffness sometimes followed by weakness in a cold environment. The symptoms are relieved by the local anaesthetic mexiletine. This mutation, which resides in the cy...
Topics
- Amino Acid Substitution
- Biological Transport
- Cell Line
- Embryo, Mammalian
- Genetic Diseases, Inborn
- Humans
- Ion Channel Gating
- Kidney
- Mexiletine
- Muscle, Skeletal
- Mutation
- Myotonia
- Phenylalanine
- Serine
- Sodium Channel Blockers
- Sodium Channels
- Temperature
- Transfection