{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:21:24Z","timestamp":1761196884562,"version":"build-2065373602"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,6,25]],"date-time":"2008-06-25T00:00:00Z","timestamp":1214352000000},"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":[[2008,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a Chinese myoclonus\u2010dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the \u03b5\u2010sarcoglycan (<jats:italic>SGCE<\/jats:italic>) gene, leading to a frameshift with a down stream stop codon. Low <jats:italic>SGCE<\/jats:italic> mRNA levels were detected in the mutation carriers by real\u2010time PCR, suggesting that the nonsense mutation might interference with the stability of <jats:italic>SGCE<\/jats:italic> mRNA. This is the first report on Chinese with a <jats:italic>SGCE<\/jats:italic> mutation leading to MDS. Our data support the fact that same mutation of <jats:italic>SGCE<\/jats:italic> gene can lead to a varied phenotype, even in the same family. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22008","type":"journal-article","created":{"date-parts":[[2008,6,25]],"date-time":"2008-06-25T15:02:14Z","timestamp":1214406134000},"page":"1472-1475","source":"Crossref","is-referenced-by-count":10,"title":["A novel mutation of the \u03b5\u2010sarcoglycan gene in a Chinese family with myoclonus\u2010dystonia syndrome"],"prefix":"10.1002","volume":"23","author":[{"given":"Xue\u2010Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang\u2010Wei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu\u2010Shan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marc","family":"Burgunder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu\u2010Hui","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zu\u2010Ming","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010Fang","family":"Shang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,25]]},"reference":[{"key":"e_1_2_7_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_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10325"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10358"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000118286.75059.35"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/344531"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.51.32534"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20661"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036780"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480100111"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2004.00974.x"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.8.1130"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0873-3"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl472"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22008","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:35:02Z","timestamp":1760970902000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,25]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,7,30]]}},"alternative-id":["10.1002\/mds.22008"],"URL":"https:\/\/doi.org\/10.1002\/mds.22008","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2008,6,25]]}}}