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Like nonsense mutations, exon rearrangements result in the generation of premature stop codons downstream of the deleted exon. SGCE exon dosage assays may identify additional families with SGCE mutation and thus reduce \u201cgenetic heterogeneity.\u201d Ann Neurol 2005;58:792\u2013797<\/jats:p>","DOI":"10.1002\/ana.20661","type":"journal-article","created":{"date-parts":[[2005,10,20]],"date-time":"2005-10-20T18:19:08Z","timestamp":1129832348000},"page":"792-797","source":"Crossref","is-referenced-by-count":61,"title":["Myoclonus\u2010dystonia due to genomic deletions in the epsilon\u2010sarcoglycan gene"],"prefix":"10.1002","volume":"58","author":[{"given":"Friedrich","family":"Asmus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farid","family":"Salih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lena Elisabeth","family":"Hjermind","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marita","family":"Munz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea A.","family":"K\u00fchn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Dupont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Kupsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Gasser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,10,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10325"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.242"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10635"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000118286.75059.35"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000073142.40185.C1"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10476"},{"key":"e_1_2_6_8_2","first-page":"113","article-title":"Inherited myoclonus\u2010dystonia","volume":"94","author":"Asmus F","year":"2004","journal-title":"Adv Neurol"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1649"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1119"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/12.7.3097"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.12.5533"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200938"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000151979.68010.9B"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.6.12.4295"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405974101"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1204-9"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/378594"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1202"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20661","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20661","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T06:51:19Z","timestamp":1697439079000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,20]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["10.1002\/ana.20661"],"URL":"https:\/\/doi.org\/10.1002\/ana.20661","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,20]]}}}