{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:35:21Z","timestamp":1760985321440},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,4,13]],"date-time":"2015-04-13T00:00:00Z","timestamp":1428883200000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Myoclonus\u2013dystonia syndrome (<jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>) is a rare autosomal\u2010dominant movement disorder characterized by brief, frequently alcohol\u2010responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the \u03b5\u2010sarcoglycan gene (<jats:italic><jats:styled-content style=\"fixed-case\">SGCE<\/jats:styled-content><\/jats:italic>). The patient was a 6\u2010year\u2010old boy. At 2 years 8 months, he had abnormal movement when he ran due to dystonia of his left leg. At 3 years 5 months, he exhibited dystonia and myoclonic movement of his arms when eating. Myoclonus was likely to develop when he felt anxiety or exhaustion. Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> showed a heterozygous mutation in <jats:italic><jats:styled-content style=\"fixed-case\">SGCE<\/jats:styled-content><\/jats:italic> (c.109 + 1 <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content> &gt; <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>). His father and uncle with the same mutation also experienced milder dystonia or myoclonic movements. <jats:italic><jats:styled-content style=\"fixed-case\">SGCE<\/jats:styled-content><\/jats:italic> mutation can cause a broad range of clinical symptoms between and within families. We should consider <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content> as a differential diagnosis for patients with paroxysmal walking abnormalities and\/or myoclonic movements.<\/jats:p>","DOI":"10.1111\/ped.12613","type":"journal-article","created":{"date-parts":[[2015,4,14]],"date-time":"2015-04-14T02:58:05Z","timestamp":1428980285000},"page":"324-326","source":"Crossref","is-referenced-by-count":2,"title":["<scp>J<\/scp>apanese familial case of myoclonus\u2013dystonia syndrome with a splicing mutation in <i><scp>SGCE<\/scp><\/i>"],"prefix":"10.1111","volume":"57","author":[{"given":"Takahito","family":"Wada","sequence":"first","affiliation":[{"name":"Division of Neurology Kanagawa Children's Medical Center  Yokohama Japan"},{"name":"Department of Medical Ethics and Medical Genetics Kyoto University Graduate School of Medicine  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Takano","sequence":"additional","affiliation":[{"name":"Division of Neurology Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25536"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.05.015"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp172"},{"key":"e_1_2_5_5_1","first-page":"325","article-title":"Inherited myoclonus\u2010dystonia syndrome","volume":"78","author":"Gasser T","year":"1998","journal-title":"Adv. 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