{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:31:33Z","timestamp":1791120693912,"version":"4.1.0"},"reference-count":30,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (<jats:italic>SGCE<\/jats:italic>) on chromosome 7q21.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We have screened for <jats:italic>SGCE<\/jats:italic> mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea. All coding exons of the <jats:italic>SGCE<\/jats:italic> gene were analysed. The <jats:italic>DYT1<\/jats:italic> mutation was also tested.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Sixteen index cases had <jats:italic>SGCE<\/jats:italic> mutations while one case with primary myoclonic dystonia carried the <jats:italic>DYT1<\/jats:italic> mutation. Thirteen different mutations were found: three nonsense mutations, three missense mutations, three splice site mutations, three deletions, and one insertion. Eleven of the <jats:italic>SGCE<\/jats:italic> index cases had M-D and five E-M. No <jats:italic>SGCE<\/jats:italic> mutations were detected in patients with other phenotypes. The total number of mutation carriers in the families was 38, six of whom were asymptomatic. Penetrance was complete in paternal transmissions and null in maternal transmissions. MDS patients with <jats:italic>SGCE<\/jats:italic> mutation had a significantly earlier onset than the non-carriers. None of the patients had severe psychiatric disorders.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> This large cohort of index patients shows that <jats:italic>SGCE<\/jats:italic> mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M).<\/jats:p>","DOI":"10.1136\/jmg.2005.036780","type":"journal-article","created":{"date-parts":[[2005,10,14]],"date-time":"2005-10-14T20:34:55Z","timestamp":1129322095000},"page":"394-400","source":"Crossref","is-referenced-by-count":69,"title":["Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes"],"prefix":"10.1136","volume":"43","author":[{"given":"S","family":"Tezenas du Montcel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Clot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Vidailhet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Roze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Damier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C P","family":"Jedynak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Camuzat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Lagueny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Vercueil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Doummar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Guyant-Mar\u00e9chal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J-L","family":"Houeto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Ponsot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Thobois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M-A","family":"Cournelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Durif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Echenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Hannequin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Tranchant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,10,14]]},"reference":[{"key":"2025101711130761000_43.5.394.1","first-page":"113","volume":"94","year":"2004","journal-title":"Adv Neurol"},{"key":"2025101711130761000_43.5.394.2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2"},{"key":"2025101711130761000_43.5.394.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"key":"2025101711130761000_43.5.394.4","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1093\/oxfordjournals.jbchem.a123276","volume":"108","year":"1990","journal-title":"J Biochem (Tokyo)"},{"key":"2025101711130761000_43.5.394.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195-266"},{"key":"2025101711130761000_43.5.394.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1963"},{"key":"2025101711130761000_43.5.394.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(97)01593-7"},{"key":"2025101711130761000_43.5.394.8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.molbrainres.2004.01.012","volume":"125","year":"2004","journal-title":"Mol Brain Res"},{"key":"2025101711130761000_43.5.394.9","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.9.3308-3315.2000"},{"key":"2025101711130761000_43.5.394.10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200938"},{"key":"2025101711130761000_43.5.394.11","doi-asserted-by":"publisher","DOI":"10.1086\/344531"},{"key":"2025101711130761000_43.5.394.12","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1212\/01.WNL.0000151979.68010.9B","volume":"64","year":"2005","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.13","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10325"},{"key":"2025101711130761000_43.5.394.14","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1212\/01.WNL.0000073142.40185.C1","volume":"61","year":"2003","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.15","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1212\/01.WNL.0000118286.75059.35","volume":"62","year":"2004","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.16","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.027177"},{"key":"2025101711130761000_43.5.394.17","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10358"},{"key":"2025101711130761000_43.5.394.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.10062"},{"key":"2025101711130761000_43.5.394.19","doi-asserted-by":"crossref","first-page":"1536","DOI":"10.1212\/01.WNL.0000061480.86610.BF","volume":"60","year":"2003","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.20","doi-asserted-by":"crossref","first-page":"1988","DOI":"10.1212\/01.WNL.0000066020.99191.76","volume":"60","year":"2003","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.21","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(04)00880-4"},{"key":"2025101711130761000_43.5.394.22","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110202"},{"key":"2025101711130761000_43.5.394.23","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870060307"},{"key":"2025101711130761000_43.5.394.24","first-page":"1","volume":"78","year":"1998","journal-title":"Adv Neurol"},{"key":"2025101711130761000_43.5.394.25","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1212\/WNL.59.4.579","volume":"59","year":"2002","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.26","doi-asserted-by":"publisher","DOI":"10.1159\/000067220"},{"key":"2025101711130761000_43.5.394.27","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1212\/WNL.59.8.1244","volume":"59","year":"2002","journal-title":"Neurology"},{"key":"2025101711130761000_43.5.394.28","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/mds.10021","volume":"17","year":"2002","journal-title":"Mov Disord"},{"key":"2025101711130761000_43.5.394.29","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S1353-8020(02)00128-1","volume":"9","year":"2003","journal-title":"Parkinsonism Relat Disord"},{"key":"2025101711130761000_43.5.394.30","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.9.1266"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2005.036780","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:13:16Z","timestamp":1760724796000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2005.036780"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,14]]},"references-count":30,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2006,4,28]]},"published-print":{"date-parts":[[2006,5]]}},"alternative-id":["10.1136\/jmg.2005.036780"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2005.036780","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,14]]}}}