Human skeletal muscle sodium channelopathies

@article{Vicart2005HumanSM,
  title={Human skeletal muscle sodium channelopathies},
  author={S Vicart and Damien Sternberg and Bertrand Fontaine and Giovanni Meola},
  journal={Neurological Sciences},
  year={2005},
  volume={26},
  pages={194-202}
}
Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium and potassium channel activation and inactivation are the basis of action potential’s production and conduction. During the past 15 years, ion channels have been implicated in diseases that have come to be known as the channelopathies. Over 30 mutations of the muscle channel gene SCN4A, which encodes the muscle voltage-gated sodium channel, have been described and associated with neuromuscular… 

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