SCN4A

References

SCN4A

gene

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myotonia
…skeletal muscle sodium channel gene SCN4A (sodium channel, voltage-gated, type IV, alpha subunit) is associated with potassium-aggravated myotonia, acetazolamide-responsive myotonia, and paramyotonia congenita. Mutations in the SCN4A gene impede the passage of sodium ions through the cell membrane, inhibiting proper muscle function.
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…skeletal muscle sodium channel gene SCN4A (sodium channel, voltage-gated, type IV, alpha subunit) is associated with potassium-aggravated myotonia, acetazolamide-responsive myotonia, and paramyotonia congenita. Mutations in the SCN4A gene impede the passage of sodium ions through the cell membrane, inhibiting proper muscle function.
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