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In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon\u2010sarcoglycan (<jats:italic>SGCE<\/jats:italic>) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive\u2010compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of <jats:italic>SGCE<\/jats:italic>. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.10062","type":"journal-article","created":{"date-parts":[[2003,4,17]],"date-time":"2003-04-17T10:02:02Z","timestamp":1050573722000},"page":"114-117","source":"Crossref","is-referenced-by-count":40,"title":["Severe myoclonus\u2010dystonia syndrome associated with a novel epsilon\u2010sarcoglycan gene truncating 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