Articles with "paramyotonia congenita" as a keyword



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Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita

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Published in 2022 at "Biology"

DOI: 10.3390/biology11040613

Abstract: Simple Summary Paramyotonia congenita (PMC) is a rare muscle disorder that causes myotonia and weakness of facial and limb muscles. The electromyography in PMC shows continual spontaneous, high-frequency spike potentials in skeletal muscles. Genetic mutations… read more here.

Keywords: pmc; nav1 channel; paramyotonia congenita; mutant nav1 ... See more keywords