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Article: Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol

TitleNeuromuscular junction acetylcholinesterase deficiency responsive to albuterol
Authors
Issue Date2012
Citation
Pediatric Neurology, 2012, v. 47, n. 2, p. 137-140 How to Cite?
AbstractCongenital myasthenic syndrome caused by endplate acetylcholinesterase deficiency constitutes a rare autosomal recessive disease. We describe a child with early-onset ptosis, complete ophthalmoplegia, facial and proximal muscle weakness, easy fatigability, a decremental electromyographic response, and a repetitive compound muscle action potential not improved by anti- acetylcholinesterase medication. Mutation analysis of the collagenic tail of endplate acetylcholinesterase (COLQ) that encodes the collagenic structural subunit of acetylcholinesterase revealed two canonic splice-site mutations: a previously identified IVS15 + 1G>A mutation and a novel IVS2 - 1G>A mutation. Treatment with albuterol resulted in progressive improvement of muscle strength, exercise tolerance, and ophthalmoplegia. Further studies are needed of the efficacy of albuterol in different types of congenital myasthenic syndrome and the physiologic basis of its beneficial effects. © 2012 Elsevier Ltd. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/233812
ISSN
2015 Impact Factor: 1.866
2015 SCImago Journal Rankings: 0.819

 

DC FieldValueLanguage
dc.contributor.authorChan, Sophelia H S-
dc.contributor.authorWong, Virginia C N-
dc.contributor.authorEngel, Andrew G.-
dc.date.accessioned2016-09-27T07:21:42Z-
dc.date.available2016-09-27T07:21:42Z-
dc.date.issued2012-
dc.identifier.citationPediatric Neurology, 2012, v. 47, n. 2, p. 137-140-
dc.identifier.issn0887-8994-
dc.identifier.urihttp://hdl.handle.net/10722/233812-
dc.description.abstractCongenital myasthenic syndrome caused by endplate acetylcholinesterase deficiency constitutes a rare autosomal recessive disease. We describe a child with early-onset ptosis, complete ophthalmoplegia, facial and proximal muscle weakness, easy fatigability, a decremental electromyographic response, and a repetitive compound muscle action potential not improved by anti- acetylcholinesterase medication. Mutation analysis of the collagenic tail of endplate acetylcholinesterase (COLQ) that encodes the collagenic structural subunit of acetylcholinesterase revealed two canonic splice-site mutations: a previously identified IVS15 + 1G>A mutation and a novel IVS2 - 1G>A mutation. Treatment with albuterol resulted in progressive improvement of muscle strength, exercise tolerance, and ophthalmoplegia. Further studies are needed of the efficacy of albuterol in different types of congenital myasthenic syndrome and the physiologic basis of its beneficial effects. © 2012 Elsevier Ltd. All rights reserved.-
dc.languageeng-
dc.relation.ispartofPediatric Neurology-
dc.titleNeuromuscular junction acetylcholinesterase deficiency responsive to albuterol-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.pediatrneurol.2012.04.022-
dc.identifier.pmid22759693-
dc.identifier.scopuseid_2-s2.0-84863324567-
dc.identifier.hkuros214829-
dc.identifier.volume47-
dc.identifier.issue2-
dc.identifier.spage137-
dc.identifier.epage140-
dc.identifier.eissn1873-5150-

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