Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.

doi:10.1016/S0006-3495(99)77249-8

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Article

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.

Biophysical journal - 1 Feb 1999

Takahashi M P, Cannon S C

Abstract excerpt

Over 20 different missense mutations in the alpha subunit of the adult skeletal muscle Na channel have been identified in families with either myotonia (muscle stiffness) or periodic paralysis, or both. The V445M mutation was recently found in a family with myotonia but no weakness. This mutation...

Topics

Cells, Cultured
Electrophysiology
Humans
Ion Channel Gating
Muscle, Skeletal
Mutation
Myotonia
Patch-Clamp Techniques
Sodium
Sodium Channels

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