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The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and\/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous <jats:italic>SGCE<\/jats:italic> mutations were identified. <jats:italic>SGCE<\/jats:italic> deficiency seems to be the common pathogenetic mechanism in myoclonus\u2010dystonia syndrome.<\/jats:p>","DOI":"10.1002\/ana.10325","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T04:02:01Z","timestamp":1034136121000},"page":"489-492","source":"Crossref","is-referenced-by-count":134,"title":["Myoclonus\u2013dystonia syndrome: \u03b5\u2010sarcoglycan mutations and phenotype"],"prefix":"10.1002","volume":"52","author":[{"given":"Friedrich","family":"Asmus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Zimprich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Tezenas Du 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