N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita
Ke Q, Ye J, Tang S, Wang J, Luo B, Ji F, Zhang X, Yu Y, Cheng X, Li Y. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita. The Journal Of Physiology 2017, 595: 6837-6850. PMID: 28940424, PMCID: PMC5685822, DOI: 10.1113/jp274877.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCold TemperatureFemaleGain of Function MutationHEK293 CellsHumansIon Channel GatingMaleMiddle AgedMolecular Dynamics SimulationMyotonic DisordersNAV1.4 Voltage-Gated Sodium Channel