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- Publisher Website: 10.1016/j.pediatrneurol.2012.04.022
- Scopus: eid_2-s2.0-84863324567
- PMID: 22759693
- WOS: WOS:000306582900012
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Article: Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol
Title | Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol |
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Authors | |
Issue Date | 2012 |
Citation | Pediatric Neurology, 2012, v. 47, n. 2, p. 137-140 How to Cite? |
Abstract | Congenital 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 Identifier | http://hdl.handle.net/10722/233812 |
ISSN | 2023 Impact Factor: 3.2 2023 SCImago Journal Rankings: 0.916 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Chan, Sophelia H S | - |
dc.contributor.author | Wong, Virginia C N | - |
dc.contributor.author | Engel, Andrew G. | - |
dc.date.accessioned | 2016-09-27T07:21:42Z | - |
dc.date.available | 2016-09-27T07:21:42Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | Pediatric Neurology, 2012, v. 47, n. 2, p. 137-140 | - |
dc.identifier.issn | 0887-8994 | - |
dc.identifier.uri | http://hdl.handle.net/10722/233812 | - |
dc.description.abstract | Congenital 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.language | eng | - |
dc.relation.ispartof | Pediatric Neurology | - |
dc.title | Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol | - |
dc.type | Article | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1016/j.pediatrneurol.2012.04.022 | - |
dc.identifier.pmid | 22759693 | - |
dc.identifier.scopus | eid_2-s2.0-84863324567 | - |
dc.identifier.hkuros | 214829 | - |
dc.identifier.volume | 47 | - |
dc.identifier.issue | 2 | - |
dc.identifier.spage | 137 | - |
dc.identifier.epage | 140 | - |
dc.identifier.eissn | 1873-5150 | - |
dc.identifier.isi | WOS:000306582900012 | - |
dc.identifier.issnl | 0887-8994 | - |