{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T18:15:46Z","timestamp":1789582546054,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"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":[[2015,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Congenital myasthenic syndromes are rare. Mutations in <jats:italic>MUSK<\/jats:italic> were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. <jats:italic>Methods:<\/jats:italic> Clinical course and electrophysiological, pathological, and genetic findings were assessed. <jats:italic>Results:<\/jats:italic> We describe the case of a boy with prenatal onset and severe respiratory symptoms with a persisting need for ventilation. The patient had severe bulbar symptoms, marked axial weakness causing a \u201cdropped head,\u201d and some facial and proximal weakness. Ophthalmoparesis developed during the first year of life. Salbutamol led to improvement, 3,4\u2010diaminopyridine had a modest effect, but pyridostigmine produced deterioration. Two novel mutations in <jats:italic>MUSK<\/jats:italic> were found by whole exome sequencing. <jats:italic>Conclusions:<\/jats:italic> We expand the phenotype of congenital myasthenic syndromes with <jats:italic>MUSK<\/jats:italic> mutations, describing a more severe clinical course with prenatal onset. Predominant bulbar and respiratory weakness with facial and axial weakness and ophthalmoparesis are diagnostic clues. <jats:italic>Muscle Nerve<\/jats:italic> 52: 668\u2013673, 2015<\/jats:p>","DOI":"10.1002\/mus.24687","type":"journal-article","created":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T23:05:38Z","timestamp":1429657538000},"page":"668-673","source":"Crossref","is-referenced-by-count":25,"title":["A severe congenital myasthenic syndrome with \u201cdropped head\u201d caused by novel <i>MUSK<\/i> mutations"],"prefix":"10.1002","volume":"52","author":[{"given":"Miriam L.","family":"Giarrana","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology University Children's Hospital Steinwiesstrasse 75 8032 Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Joset","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University of Zurich Schlieren\u2010Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinrich","family":"Sticht","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry Friedrich\u2010Alexander\u2010University Erlangen\u2013Nuremberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Robb","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre Great Ormond Street Hospital for Children London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Steindl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University of Zurich Schlieren\u2010Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University of Zurich Schlieren\u2010Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology University Children's Hospital Steinwiesstrasse 75 8032 Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2012-000404"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.10.006"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000134"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh333"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.08.002"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7118-5"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq110"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0053826"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c3fce9"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20637"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.02038.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2006.09.019"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150181505"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(00)89080-5"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.06.002"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.12.011"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.06.170"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.09.002"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22130"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.07.010"}],"container-title":["Muscle &amp; 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