Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

Abstract Background Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. Mutations in the acetylcholine transferase ( CHAT ) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worse...

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Veröffentlicht in:	European journal of paediatric neurology 2010-07, Vol.14 (4), p.326-333
Hauptverfasser:	Schara, Ulrike, Christen, Hans-Jürgen, Durmus, Hacer, Hietala, Marja, Krabetz, Kerstin, Rodolico, Carmelo, Schreiber, Gudrun, Topaloglu, Haluk, Talim, Beril, Voss, Wolfgang, Pihko, Helena, Abicht, Angela, Müller, Juliane S, Lochmüller, Hanns
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylcholinesterase Arginine - genetics CHAT Choline acetyltransferase Choline O-Acetyltransferase - antagonists & inhibitors Choline O-Acetyltransferase - genetics Congenital myasthenic syndromes Electric Stimulation - methods Electroencephalography - methods Enzyme Inhibitors - therapeutic use Female Genetic Predisposition to Disease - genetics Genetic Testing Glycine - genetics Histidine - genetics Humans Inhibitors Longitudinal Studies Magnetic Resonance Imaging - methods Male Muscle, Skeletal - pathology Mutation - genetics Myasthenic Syndromes, Congenital - drug therapy Myasthenic Syndromes, Congenital - etiology Myasthenic Syndromes, Congenital - genetics Myasthenic Syndromes, Congenital - physiopathology Neurology Pediatrics Receptor Protein-Tyrosine Kinases - immunology Receptors, Cholinergic - immunology Receptors, Cholinergic - metabolism Repetitive stimulation test
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