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Mutated SCN4A activates sodium(1+). 2 / 2
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"More specifically the most prominent effects caused by P72L mutation were a hyperpolarized shift of the voltage dependence of activation, a slower recovery of fast inactivation, a slower kinetic of en[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

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"Nondystrophic myotonias (NDM) are usually divided in two groups : myotonia congenita (MC) (MIM 160800; 255700) caused by mutations of the CLCN1 gene and paramyotonia congenita (PMC) (MIM168300) or sod[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"