Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P
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Introduction: Our aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to c... ...
