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. 189-196. ISSN 1090-3798

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Official URL: https://doi.org/10.1016/j.ejpn.2011.03.006

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

MeSH:

Acetylcholine / genetics ; Acetylcholinesterase / genetics ; Genetic Heterogeneity ; Humans ; Myasthenic Syndromes, Congenital / genetics ; Myasthenic Syndromes, Congenital / metabolism ; Myasthenic Syndromes, Congenital / physiopathology ; Neuromuscular Junction / genetics ; Neuromuscular Junction / metabolism ; Neuromuscular Junction / physiopathology ; Receptors, Cholinergic / genetics

Departments:

Katedra za pedijatriju

Depositing User:

Marijan Šember

Status:

Published

Creators: