Voltage-sensor mutations in channelopathies of skeletal muscle
β Scribed by Stephen C. Cannon
- Book ID
- 110117061
- Publisher
- Cambridge University Press
- Year
- 2010
- Tongue
- English
- Weight
- 514 KB
- Volume
- 588
- Category
- Article
- ISSN
- 0022-3751
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π SIMILAR VOLUMES
## Abstract Muscle channelopathies caused by mutations in the __SCN4A__ gene that encodes the muscle sodium channel are transmitted by autosomalβdominant inheritance. We report herein the first cases of homozygous patients for sodium channel mutations responsible for paramyotonia congenita (I1393T)
The voltage-dependent K + channels of the mammalian sarcolemma were studied with the patchclamp technique in intact, enzymatically dissociated fibres from the toe muscle of the mouse. With a physiological solution (containing 2.5 mM K Β§ in the pipette, depolarizing pulses imposed on a cell-attached