SCN4A and congenital myopathy: We report a patient who presented with arthrogryposis multiplex congenita, congenital myopathy, and episodes of bronchospasm who has the c.2386C>G, p.L796V variant in SCN4A. Expression studies of L796V channels revealed a two forms of gain-of-function, enhanced activation and impaired slow inactivation, and which in model simulations led to prolonged bursts of myotonic discharges.