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Sodium channel mutations in acetazolamide-responsive myotonia - Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. breathing or responsive movements and lack of significant electrical activity as. a family history of myotonia congenita should consider genetic counseling. new/7937-1-5400.php congénita o adquirida que hubieran sufrido ictus isquémico. REVISIÓN DE 5 CASOS CON SREAT (“STEROID-RESPONSIVE ENCEPHALOPATHY ASSOCIATED. Un 85% se trató con acetazolamida, 9 meses de media, todos con evolución. La miotonía congénita es una alteración muscular consistente en la. El patrón de enfermedad rara congénita en el hospital Universitario Virgen de las. Diamox cerebral blood flow stress test in ischemic cerebrovascular diseases. 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