| Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. | |
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MedLine Citation:
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PMID: 21498094 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Nina Barišić; Amina Chaouch; Juliane S Müller; Hanns Lochmüller |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-15 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: - ISSN: 1532-2130 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Pediatrics, Medical School, University of Zagreb, 10000 Zagreb, Rebro, Kišpatićeva 12, Zagreb, Croatia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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