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    • Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients 

      Vindas Smith, Rebeca; Fiore, Michele; Vásquez Cerdas, Melissa; Cuenca Berger, Patricia; del Valle Carazo, Gerardo; Lagostena, Laura; Gaitán Peñas, Héctor; Estevez Povedano, Raúl; Push, Michael; Morales Montero, Fernando (2016)
      Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ...