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Mutated SCN4A activates sodium(1+). 3 / 3
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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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"Consequently, mutations of SCN4A encoding Na V 1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders : sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia."
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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]"
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