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Reduced current density and surface expression of a CLCN1 mutation causing dominant or recessive myotonia in Costa Rica

Fiore, Michele; Estevez Povedano, Raúl; Gaitán Peñas, Héctor; Espinoza Arias, Mauricio; Vásquez Cerdas, Melissa; Vindas Smith, Rebeca; Pusch, Michael; Morales Montero Fernando (2014)

Mutations in CLCN1 coding for the muscle ClC-1 Cl- channel lead to dominant (Thomsen's disease) of recessive (Becker's disease) myotonia. Here we characterized several CLCN1 mutations identified in Costa Rica myotonia ...