title: Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
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.
authors.affiliation: Department of Pediatrics, Medical School, University of Zagreb, 10000 Zagreb, Rebro, Kišpatićeva 12, Zagreb, Croatia. barisic.nina@gmail.com
authors.forename: Nina
authors.initials: N
authors.lastname: Barišić
authors.forename: Amina
authors.initials: A
authors.lastname: Chaouch
authors.forename: Juliane S
authors.initials: JS
authors.lastname: Müller
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000109:Acetylcholine / Q000235:genetics; D000110:Acetylcholinesterase / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D009469:Neuromuscular Junction / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D011950:Receptors, Cholinergic / Q000235:genetics
chemical_list: D011950:Receptors, Cholinergic; D000110:Acetylcholinesterase; D000109:Acetylcholine