Listar Medicina, ciencias biomédicas y salud pública por autor "d1b5a3d5-ecf3-41d3-9ad0-890a6480dcf3"
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Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Brenes García, Oscar Gerardo; Barbieri, Raffaella; Vásquez Cerdas, Melissa; Vindas Smith, Rebeca; Roig Fernández Jeffry; Romero Vásquez, Adarli; del Valle Carazo, Gerardo; Bermúdez Guzmán, Luis; Bertelli, Sara; Pusch, Michael; Morales Montero, Fernando (2021)Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with ...