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Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00255
Abstract: Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 channel. We describe seven families with a series of symptoms ranging from asymptomatic to clearly myotonic signs that have…
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Keywords:
domain nav1;
channel myotonia;
sodium channel;
novel mutations ... See more keywords