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Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.

Lookup NU author(s): Dr Amina Chaouch, Dr Juliane Mueller, Professor Hanns Lochmuller

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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. (C) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Publication metadata

Author(s): Barisic N, Chaouch A, Muller JS, Lochmuller H

Publication type: Article

Publication status: Published

Journal: European Journal of Paediatric Neurology

Year: 2011

Volume: 15

Issue: 3

Pages: 189-196

Print publication date: 17/04/2011

ISSN (print): 1090-3798

ISSN (electronic): 1532-2130

Publisher: Elsevier Ltd

URL: http://dx.doi.org/10.1016/j.ejpn.2011.03.006

DOI: 10.1016/j.ejpn.2011.03.006

PubMed id: 21498094

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