{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:33:25Z","timestamp":1791048805275,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,9,23]],"date-time":"2011-09-23T00:00:00Z","timestamp":1316736000000},"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":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow\u2010channel syndrome, Dok\u20107 myasthenia, and \u03b2<jats:sub>2<\/jats:sub>\u2010laminin deficiency, and is not useful in CMS due to defects in muscle\u2010specific kinase (MuSK), agrin, and plectin. EP AChE, Dok\u20107, and \u03b2<jats:sub>2<\/jats:sub>\u2010laminin deficiencies respond favorably to ephedrine, but ephedrine can no longer be prescribed in the USA. <jats:italic>Methods:<\/jats:italic> We used albuterol, another sympathomimetic agent, to treat 3 patients with EP AChE deficiency and 15 with Dok\u20107 myasthenia. Response to therapy was evaluated by a 9\u2010point questionnaire pertaining to activities of daily life. <jats:italic>Results:<\/jats:italic> Comparison of the pre\u2010 and posttreatment responses indicated a beneficial response to albuterol (<jats:italic>P<\/jats:italic> &lt; 0.001) in both patient groups. The adverse effects of therapy were like those of ephedrine. <jats:italic>Conclusion:<\/jats:italic> Our observations should spur controlled, prospective clinical trials of albuterol in these as well as other CMS. Muscle Nerve, 2011<\/jats:p>","DOI":"10.1002\/mus.22176","type":"journal-article","created":{"date-parts":[[2011,9,19]],"date-time":"2011-09-19T20:48:32Z","timestamp":1316465312000},"page":"789-794","source":"Crossref","is-referenced-by-count":109,"title":["Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok\u20107 myasthenia"],"prefix":"10.1002","volume":"44","author":[{"given":"Teerin","family":"Liewluck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Selcen","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":[[2011,9,23]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-009-9229-0"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.01.001"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063693"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh333"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c3fce9"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.015"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199908000-00006"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31820882bd"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.06.003"},{"key":"e_1_2_6_11_2","first-page":"237","volume-title":"Goodman and Gilman's the pharmacological basis of therapeutics","author":"Westfall TC","year":"2006"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1930.27120410003009c"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000167132.35865.31"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm325"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21408"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.09.008"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181dd43bf"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010403"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/116.3.633"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.7.1487"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm068"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.6140.833-b"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1081-1206(10)63356-X"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/41.1.111"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(93)90025-I"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-8993(96)00894-3"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00028.2007"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7742(08)60100-2"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22220"},{"key":"e_1_2_6_30_2","first-page":"137","volume-title":"Goodman and Gilman's the pharmacological basis of therapeutics","author":"Westfall TC","year":"2006"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914087107"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1041650105"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.22176","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.22176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T16:40:06Z","timestamp":1696869606000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.22176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,23]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1002\/mus.22176"],"URL":"https:\/\/doi.org\/10.1002\/mus.22176","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,23]]}}}