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Using whole\u2010exome sequencing we identified <jats:italic>DPAGT1<\/jats:italic> as a new gene associated with CMS. DPAGT1 catalyses the first step of <jats:italic>N<\/jats:italic>\u2010linked protein glycosylation. <jats:italic>DPAGT1<\/jats:italic> patients are characterized by weakness of limb muscles, response to treatment with cholinesterase inhibitors, and the presence of tubular aggregates on muscle biopsy. We showed that <jats:italic>DPAGT1<\/jats:italic> is required for glycosylation of acetylcholine receptor (AChR) subunits and efficient export of AChR to the cell surface. We suggest that the primary pathogenic mechanism of <jats:italic>DPAGT1<\/jats:italic>\u2010associated CMS is reduced levels of AChRs at the endplate region. This finding demonstrates that impairment of the <jats:italic>N<\/jats:italic>\u2010linked glycosylation pathway can lead to the development of CMS.<\/jats:p>","DOI":"10.1111\/j.1749-6632.2012.06790.x","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T03:28:36Z","timestamp":1356146916000},"page":"29-35","source":"Crossref","is-referenced-by-count":34,"title":["Identification of <i>DPAGT1<\/i> as a new gene in which mutations cause a congenital myasthenic syndrome"],"prefix":"10.1111","volume":"1275","author":[{"given":"Katsiaryna","family":"Belaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Finlayson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Cossins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei Wei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Maxwell","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":[[2012,12,20]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.12.004"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.10.009"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.008"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6262-z"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.022"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.2174\/138945009788488369"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi200346n"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/anie.200601645"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21126"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.006"},{"key":"e_1_2_7_13_2","doi-asserted-by":"crossref","first-page":"14250","DOI":"10.1016\/S0021-9258(18)77293-1","article-title":"Cloning, sequence, and expression of a cDNA encoding hamster UDP\u2010GlcNAc: dolichol phosphate N\u2010acetylglucosamine\u20101\u2010phosphate transferase","volume":"265","author":"Zhu X.Y.","year":"1990","journal-title":"J. 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