Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

Barišić, Nina and Chaouch, Amina and Müller, Juliane S. and Lochmüller, Hanns (2011) Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. European Journal of Paediatric Neurology, 15 (3). pp. 189-96. ISSN 1090-3798

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    English abstract

    Congenital 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.

    Item Type: Article
    Divisions: Katedra za pedijatriju
    Depositing User: Marijan Šember
    Status: Published
    Barišić, Nina
    Chaouch, Amina
    Müller, Juliane S.
    Lochmüller, Hanns
    Date: May 2011
    Date Deposited: 01 Sep 2011
    Last Modified: 23 Sep 2011 18:12
    Subjects: /
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