{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:40:18Z","timestamp":1791099618285,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,7,6]]},"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:p>Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders that give rise to a defect in neuromuscular transmission. We described here three patients with a characteristic phenotype of recessive CMS and presenting mutation in the gene encoding rapsyn <jats:italic>(RAPSN)<\/jats:italic>. Familial analysis showed that one allelic mutation failed to be detected by direct sequencing. An allelic quantification on patient's DNA identified three novel multi-exon deletions of <jats:italic>RAPSN<\/jats:italic>. These three genomic rearrangements in RAPSN represent 15% of our CMS patients with <jats:italic>RAPSN<\/jats:italic> mutations and we emphasize that single-nucleotide polymorphism markers and a gene dosage method should be performed in addition to DNA direct sequencing analysis particularly when there is a genetic counselling issue.<\/jats:p>","DOI":"10.1136\/jmg.2010.081034","type":"journal-article","created":{"date-parts":[[2010,10,7]],"date-time":"2010-10-07T22:27:19Z","timestamp":1286490439000},"page":"795-796","source":"Crossref","is-referenced-by-count":9,"title":["Multiexon deletions account for 15% of congenital myasthenic syndromes with <i>RAPSN<\/i> mutations after negative DNA sequencing"],"prefix":"10.1136","volume":"47","author":[{"given":"Karen","family":"Gaudon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"P\u00e9nisson-Besnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Bouhour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Demay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Ben Ammar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Bauch\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Vial","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Nicolas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Hanta\u00ef","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2010,10,7]]},"reference":[{"key":"2025100521513230000_47.12.795.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2004.12.007"},{"key":"2025100521513230000_47.12.795.2","doi-asserted-by":"publisher","DOI":"10.1086\/339465"},{"key":"2025100521513230000_47.12.795.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh333"},{"key":"2025100521513230000_47.12.795.4","doi-asserted-by":"publisher","DOI":"10.1126\/science.1130837"},{"key":"2025100521513230000_47.12.795.5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl219"},{"key":"2025100521513230000_47.12.795.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.11.004"},{"key":"2025100521513230000_47.12.795.7","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1055\/s-2004-820993","article-title":"Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms","volume":"35","author":"Ioos","year":"2004","journal-title":"Neuropediatrics"},{"key":"2025100521513230000_47.12.795.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00824.x"},{"key":"2025100521513230000_47.12.795.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.06.010"},{"key":"2025100521513230000_47.12.795.10","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1212\/01.WNL.0000085865.55513.AE","article-title":"Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes","volume":"61","author":"Burke","year":"2003","journal-title":"Neurology"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2010.081034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:51:38Z","timestamp":1759726298000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2010.081034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,7]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2010,11,22]]},"published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1136\/jmg.2010.081034"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2010.081034","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,7]]}}}