{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:16:59Z","timestamp":1760984219298},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,17]],"date-time":"2011-11-17T00:00:00Z","timestamp":1321488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background:\u2002<\/jats:bold> Myoclonus dystonia is an autosomal dominant dystonia\u2010plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified.<\/jats:p><jats:p><jats:bold>Method:\u2002<\/jats:bold> We report of a three\u2010generation family with myoclonus dystonia displaying a varied phenotype and maternal imprinting. Additionally, this family displays some unusual clinical presentations including alcohol\u2010induced dystonia in an adult man, which will be discussed.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> A novel mutation c.386T&gt;C [p.I129T] was found within exon 3 of the SGCE gene in all three affected family members. In addition, two additional mutations [c.305G&gt;A and IVS3+15G&gt;A], judged to be polymorphisms in the SGCE gene, were found in two affected and one healthy family member.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol\u2010induced dystonia.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2011.02502.x","type":"journal-article","created":{"date-parts":[[2011,10,25]],"date-time":"2011-10-25T14:12:35Z","timestamp":1319551955000},"update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype"],"prefix":"10.1111","volume":"101","author":[{"given":"Kristina","family":"Tedroff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Norling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,17]]},"reference":[{"key":"e_1_2_4_2_2","first-page":"325","volume-title":"Adv Neurol","author":"Gasser T","year":"1998"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22425"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870050403"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.242"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21935"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9521"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01159.x"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000262029.91552.e0"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22599"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-52014-2.00050-1"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0347"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03049.x"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23392"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1080\/02699050500442972"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.338"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1651-2227.2011.02502.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1651-2227.2011.02502.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T21:59:11Z","timestamp":1697407151000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1651-2227.2011.02502.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,17]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1111\/j.1651-2227.2011.02502.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1651-2227.2011.02502.x","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,17]]},"assertion":[{"value":"2011-11-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}