Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

doi:10.1111/j.1469-7793.1998.685bj.x

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Article

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

The Journal of physiology - 1 Aug 1998

Green D S, George A L, Cannon S C

Abstract excerpt

1. Missense mutations in the alpha-subunit of the human skeletal muscle sodium channel (hSkM1) have been detected in some heritable forms of myotonia. By recording Na+ currents from cells transfected with cDNA encoding either wild-type or mutant hSkM1, we characterized the functional consequences...

Topics

DNA Primers
Electric Stimulation
Electrophysiology
Humans
Ion Channel Gating
Kidney
Kinetics
Membrane Potentials
Mutation
Myotonia
Patch-Clamp Techniques
Sodium Channels
Structure-Activity Relationship
Transfection

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