Article
Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
The Journal of physiology - 1 Feb 2004
Bouhours Magali, Sternberg Damien, Davoine Claire-Sophie, Ferrer Xavier, Willer Jean Claude, Fontaine Bertrand, Tabti Nacira
Abstract excerpt
Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming alpha subunit (hSkM1) of the skeletal muscle Na+ channel. Muscle stiffness is the predominant clinical symptom. It is usually induced by exposure to cold and is aggravated by exercise. The most prevalent PC mutations occur at T1313 on DIII-DIV linker, and at R1448...
Topics
- Adult
- Alanine
- Amino Acid Substitution
- Cell Line
- Cold Temperature
- Electrophysiology
- Female
- Humans
- Kinetics
- Muscle, Skeletal
- Mutation, Missense
- Myotonic Disorders
- NAV1.4 Voltage-Gated Sodium Channel