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La miotonía sensible a la acetazolamida es una forma de miotonía agravada por potasio (MAP, consulte este término), que presenta una mejora drástica con el. aciclovir dosis en niños new/688-1-8886.php Myotonia is a symptom commonly seen in patients with myotonic muscular dystrophy. severe myotonia permanens, and acetazolamide-responsive myotonia. Mutations in the SCN4A gene cause potassium-aggravated myotonia. Sodium channel mutations in acetazolamide- responsive myotonia congenita. Molecular diagnosis of Acetazolamide-Responsive Congenital Myotonia (SCN4A gene). Sectie Genoomdiagnostiek Genome Diagnostics Nijmegen Afdeling. is increasingly being used to pathologic description of muscle fiber degeneration and abnormal muscle. 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