title: New horizons for congenital myasthenic syndromes.
abstract: During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.
authors.affiliation: Neuromuscular Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. age@mayo.edu
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
authors.forename: Xin-Ming
authors.initials: XM
authors.lastname: Shen
authors.forename: Duygu
authors.initials: D
authors.lastname: Selcen
authors.forename: Steven
authors.initials: S
authors.lastname: Sine
mesh_terms: D002795:Choline O-Acetyltransferase / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*; D051190:Plectin / Q000235:genetics; D011950:Receptors, Cholinergic / Q000235:genetics; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics
chemical_list: D051190:Plectin; D011950:Receptors, Cholinergic; D002795:Choline O-Acetyltransferase; D017855:Transferases (Other Substituted Phosphate Groups); C023222:UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase