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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene

Morales Montero, Fernando; Cuenca Berger, Patricia; del Valle Carazo, Gerardo; Vásquez Cerdas, Melissa; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Johnson, Keith; Lin, Xi; Ashizawa, Tetsuo (Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm ...