• Eur. J. Paediatr. Neurol. · May 2011

    Review

    Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

    • Nina Barišić, Amina Chaouch, Juliane S Müller, and Hanns Lochmüller.
    • Department of Pediatrics, Medical School, University of Zagreb, 10000 Zagreb, Rebro, Kišpatićeva 12, Zagreb, Croatia. barisic.nina@gmail.com
    • Eur. J. Paediatr. Neurol. 2011 May 1; 15 (3): 189-96.

    AbstractCongenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In this report we will explore the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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