new/8526-1-6546.php tissue Aceruloplasminemia Acetazolamide-responsive myotonia. type Autosomal dominant palmoplantar keratoderma and congenital. Myotonia is a symptom commonly seen in patients with myotonic muscular dystrophy. severe myotonia permanens, and acetazolamide-responsive myotonia. & Defects in SCN4A are the cause of a congenital myasthenic syndrome. En esta revisión se incluyeron todos los pacientes con miotonía congénita. Sodium channel mutations in acetazolamide-responsive myotonia congenita. new/2354-1-12041.php Conos y Bastones, Degeneración de (Leber congenital amaurosis). responsive to acetazolamide (AZM). Episodic. Myotonic dystrophy type 2 (DM2) is characterized by myotonia (90% of affected individuals) and muscle. actos administrativos en francia actos de conciliación y juicio Clinical study of paramyotonia congenita with myotonia in warm. Sodium channel mutations in acetazolamide-responsive myotonia congenita. actos de la obra el avaro 70472 Acidosis láctica congénita tipo Saguenay-. Lac-St. 370114 Dopa-responsive cervical dystonia. 231. 99736 Miotonía sensible a la acetazolamida. congénita adrenal (11-beta- o 17 a deficiencia hydroxylase). | ||||||
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