{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:37:52Z","timestamp":1791027472092,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,6,30]],"date-time":"2011-06-30T00:00:00Z","timestamp":1309392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the epsilon subunit of the acetylcholine receptor (AChR) are a common cause of congenital myasthenic syndrome (CMS). Patients are usually treated with acetylcholinesterase inhibitors and 3,4\u2010diaminopyridine with modest clinical benefit. We report 2 patients with CMS due to mutations in the AChR epsilon subunit. The first patient carries two heterozygous frameshift mutations, \u03b5127ins5 and \u03b51293insG. The second patient is homozygous for the \u03b5C142Y mutation that curtails AChR expression to 22% of wild\u2010type in HEK cells. Treatment with pyridostigmine and 3,4\u2010diaminopyridine had a limited beneficial effect in the first patient, and the second patient became wheelchair\u2010bound during therapy. The additional use of albuterol produced dramatic improvement in strength and in activities of daily living in both patients. The efficacy and safety of albuterol in patients who harbor identified low\u2010expressor or null mutations in the epsilon or other subunits of AChR merits a well\u2010designed clinical trial. Muscle Nerve, 2011<\/jats:p>","DOI":"10.1002\/mus.22153","type":"journal-article","created":{"date-parts":[[2011,6,30]],"date-time":"2011-06-30T19:50:30Z","timestamp":1309463430000},"page":"289-291","source":"Crossref","is-referenced-by-count":48,"title":["Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon\u2010subunit mutations"],"prefix":"10.1002","volume":"44","author":[{"given":"Menachem","family":"Sadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin\u2010Ming","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew G.","family":"Engel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,30]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10269"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.753"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200009)48:3<379::AID-ANA14>3.0.CO;2-O"},{"key":"e_1_2_5_5_2","first-page":"1401","article-title":"The effect of ephedrine in the treatment of myasthenia gravis: second report","volume":"100","author":"Edgeworth H","year":"1933","journal-title":"J Am Med"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880010304"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000167132.35865.31"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm072"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0856-0"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(93)90025-I"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-8993(96)00894-3"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0028-3908(93)90159-Z"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.22153","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.22153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T11:59:31Z","timestamp":1696766371000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.22153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,30]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1002\/mus.22153"],"URL":"https:\/\/doi.org\/10.1002\/mus.22153","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,30]]}}}