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Congenital myasthenic syndromes and child myasthenia gravis

Publication at First Faculty of Medicine |
2010

Abstract

Congenital disorders of neuromuscular transmission are heterogenous genetically determined disorders which are known as congenital myasthenic syndromes. This review is dealing with their pathogenesis, classification, clinical and laboratory characteristics, various difficulties in the area of diagnosis including molecular genetic analysis and their treatment.