{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:06Z","timestamp":1786978206484,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,12,20]],"date-time":"2007-12-20T00:00:00Z","timestamp":1198108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2008,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Myoclonus\u2010dystonia (M\u2010D) (MIM 159900) is a rare \u201cdystonia plus\u201d syndrome, characterized by rapid myoclonic jerks, predominantly in the neck and upper limbs, in combination with dystonia. Mutations in the gene \u03b5\u2010sarcoglycan (\n                    <jats:italic>SGCE<\/jats:italic>\n                    ) are known to be responsible for approximately one\u2010third of cases. We screened 21 probands diagnosed with M\u2010D for large deletions who were mutation negative as determined by PCR\u2010direct sequencing. Multiplex PCR and quantification of PCR products was performed using a modified application of denaturing high performance liquid chromatography (dHPLC). We have identified two novel large multiexonic deletions of\n                    <jats:italic>SGCE<\/jats:italic>\n                    , which were confirmed by amplifying and sequencing the deletion breakpoints. Five other families were found to harbor small mutations identified by direct sequencing. Analysis of the region surrounding the deletions demonstrates that both deletions are the result of nonhomologous recombination with homologous end joining. This is only the second report of intragenic deletions with\n                    <jats:italic>SGCE<\/jats:italic>\n                    and it highlights the need to include exonic copy number variation when performing mutational analysis of\n                    <jats:italic>SGCE<\/jats:italic>\n                    . \u00a9 2007 Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.21895","type":"journal-article","created":{"date-parts":[[2007,12,20]],"date-time":"2007-12-20T16:53:02Z","timestamp":1198169582000},"page":"456-460","source":"Crossref","is-referenced-by-count":15,"title":["Large deletions account for an increasing number of mutations in\n                    <i>SGCE<\/i>"],"prefix":"10.1002","volume":"23","author":[{"given":"Fabin","family":"Han","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lemuel","family":"Racacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Read","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oksana","family":"Suchowersky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Grimes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis E.","family":"Bulman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,12,20]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"325","article-title":"Inherited myoclonus\u2010dystonia syndrome","volume":"78","author":"Gasser T","year":"1998","journal-title":"Adv Neurol"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/90.3.669"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10325"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.242"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000253188.76092.06"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molbrainres.2004.01.012"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl472"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10476"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.027177"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10635"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036780"},{"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":"10.1212\/01.WNL.0000073142.40185.C1"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.8.1183"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20661"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30790"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20162"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200938"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1086\/344531"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21895","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21895","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:35:38Z","timestamp":1760967338000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21895"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,20]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,2,15]]}},"alternative-id":["10.1002\/mds.21895"],"URL":"https:\/\/doi.org\/10.1002\/mds.21895","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,20]]}}}