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Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4

Elia, Nathaniel; Palmio, Johanna; Castaneda, Marisol Sampedro; Shieh, Perry B.; Quinonez, Marbella; Suominen, Tiina; Hanna, Michael G.; Männikkö, Roope; Udd, Bjarne; Cannon, Stephen C. (2019)
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