{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T12:55:29Z","timestamp":1782996929476,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,12,28]],"date-time":"2012-12-28T00:00:00Z","timestamp":1356652800000},"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":[[2013,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion\u2010channel activation. <jats:italic>Methods:<\/jats:italic> Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant function and expression levels. Patient response to treatment was measured by quantitative myasthenic gravis and Medical Research Council grade strength scores. <jats:italic>Results:<\/jats:italic> We report an unusual case due to heteroallelic mutations in <jats:italic>CHRNE<\/jats:italic>. The slow channel mutation, p.\u03b5S278del, is accompanied by a severe low\u2010expression mutation, p.\u03b5R217L, on the second allele. Expression studies and cosegregation of p.\u03b5S278del with the disorder in the patient's offspring demonstrate robust expression of the p.\u03b5S278del mutation. The patient showed modest benefits from standard treatment with fluoxetine, but there was dramatic improvement when salbutamol was combined with fluoxetine. <jats:italic>Conclusions:<\/jats:italic> This case suggests that salbutamol, which is beneficial in some other congenital myasthenic syndromes, might also be considered in addition to fluoxetine in slow channel syndrome. Muscle Nerve, 2013<\/jats:p>","DOI":"10.1002\/mus.23534","type":"journal-article","created":{"date-parts":[[2012,7,27]],"date-time":"2012-07-27T04:34:21Z","timestamp":1343363661000},"page":"279-282","source":"Crossref","is-referenced-by-count":27,"title":["Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol"],"prefix":"10.1002","volume":"47","author":[{"given":"Sarah","family":"Finlayson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Spillane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri M.","family":"Kullmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Howard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Palace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.10.009"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.05.001"},{"key":"e_1_2_6_4_2","first-page":"201","article-title":"The congenital myasthenic syndromes","author":"Palace J","year":"2008","journal-title":"J Neuroimmunol"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.01.001"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.2.162"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000344248.36823.b5"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2004.081497"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20435"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.1.16"},{"key":"e_1_2_6_11_2","volume-title":"Ephedrine ameliorates impaired neuromuscular transmission in an animal model of the slow channel congenital myasthenic syndrome. 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