[Studies on therapeutic strategies for congenital myasthenic syndromes.]

Abstract excerpt

Congenital myasthenic syndromes(CMS)are caused by germline mutations in genes encoding molecules expressed at the neuromuscular junction. Mutations have been identified in 25 genes. Clinical phenotypes and rational therapies widely vary depending on the defective genes. Drugs that are used for CMS include cholinesterase inhibitors, 3,4-diaminopyridine, effedrine, albuterol(salbutamol), acetazolamide, quinidine,...

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