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TRUDELL RG, KAISER KK, GRIGGS RC Acetazolamide-responsive myotonia congenita. Ataxia periódica familiar com mioquimia sensible a acetazolamida:. Unusual clinical findings and complex III deficiency in a family with myotonic dystrophy. J Neurol. Coenzyme Q10 responsive ataxia: 2-year-treatment follow-up. Congenital hypomyelinating neuropathy due to a novel MPZ mutation. new/3542-1-7060.php acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. L.J. Ptaeek, MD; R. Tawil, MD; R.C. Griggs, MD;. la parálisis sensible al potasio, miotonia congénita fluctuante, el Síndrome de Andersen. tion in acetazolamide-responsive myotonia congenita, pa-. Sodium channel mutations in acetazolamide-responsive myotonia congenital paramyotonia congenita, and hyperkale- mic periodic paralysis. Neurology 1994. new/4844-1-21430.php monophosphate) cíclico (CREB, cyclic AMP-responsive element-binding). 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Methods:The dynamic monitoring of 195 patients with myotonic and. congénita adrenal (11-beta- o 17 a deficiencia hydroxylase). | ||||||
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