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Molecular diagnosis of Acetazolamide-Responsive Congenital Myotonia (SCN4A gene). Sectie Genoomdiagnostiek Genome Diagnostics Nijmegen Afdeling. Buscar Mechanisms of action of acetazolamide in the prophylaxis En ESMUY Chile Idioma Español. General features of myotonia. Clinical: Delayed. Para reducir la miotonía pueden resultar de utilidad los bloqueadores de los. Sodium channel mutations in acetazolamide-responsive myotonia congenita. Acetazolamide, Chlorprothixene, Vitamin C. Myotonia Congenita, Myotonic Dystrophy, Neurofibromatoses, Neuronal Ceroid-Lipofuscinoses. 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