{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:17:03Z","timestamp":1787015823294,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T00:00:00Z","timestamp":1516752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MRC Programme Grant MR\/M006824\/1"],"award-info":[{"award-number":["MRC Programme Grant MR\/M006824\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission. The number of cases recognized, at around 1:100,000 in the United Kingdom, is increasing with improved diagnosis. The advent of next\u2010generation sequencing has facilitated the discovery of many genes that harbor CMS\u2010associated mutations. An emerging group of CMS, characterized by a limb\u2010girdle pattern of muscle weakness, is caused by mutations in genes that encode proteins involved in the initial steps of the N\u2010linked glycosylation pathway, which is surprising, since this pathway is found in all mammalian cells. However, mutations in these genes may also give rise to multisystem disorders (congenital disorders of glycosylation) or muscle disorders where the myasthenic symptoms constitute only one component within a wider phenotypic spectrum. We also report a CMS due to mutations in\n                    <jats:italic>COL13A1<\/jats:italic>\n                    , which encodes an extracellular matrix protein that is concentrated at the neuromuscular junction and highlights a role for these extracellular matrix proteins in maintaining synaptic stability that is independent of the AGRN\/MuSK clustering pathway. Knowledge about the neuromuscular synapse and the different proteins involved in maintaining its structure as well as function enables us to tailor treatments to the underlying pathogenic mechanisms.\n                  <\/jats:p>","DOI":"10.1111\/nyas.13576","type":"journal-article","created":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T07:33:29Z","timestamp":1516779209000},"page":"163-169","source":"Crossref","is-referenced-by-count":8,"title":["Myasthenic syndromes due to defects in COL13A1 and in the N\u2010linked glycosylation pathway"],"prefix":"10.1111","volume":"1413","author":[{"given":"David","family":"Beeson","sequence":"first","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neuroscience Weatherall Institute of Molecular Medicine  The John Radcliffe Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Cossins","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neuroscience Weatherall Institute of Molecular Medicine  The John Radcliffe Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Rodriguez\u2010Cruz","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neuroscience Weatherall Institute of Molecular Medicine  The John Radcliffe Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Maxwell","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neuroscience Weatherall Institute of Molecular Medicine  The John Radcliffe Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei\u2010Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"Neurosciences Group, Nuffield Department of Clinical Neuroscience Weatherall Institute of Molecular Medicine  The John Radcliffe Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Palace","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neuroscience Level 3 The West Wing  The John Radcliffe Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3304"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.015"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1132-4"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu160"},{"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":"crossref","first-page":"122370","DOI":"10.1093\/hmg\/ddq110","article-title":"Mutations in MUSK causing congenital myasthenic syndrome impair MuSK\u2013Dok\u20107 interaction","volume":"19","author":"Maselli R.A.","year":"2010","journal-title":"Hum. 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