Missense mutation causes multiple defects in Nav1.4 channel gating and leads to an SCN4A-associated overlap phenotype
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Mutations in SCN4A gene encoding the skeletal muscle-type voltage-gated sodium channel Nav1.4 are known to cause neuromuscular disorders. Here, we report a previously undescribed variant affecting the DIII-IV cytoplasmic linker, which is a critically important... ...
