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Autosomal dominant forms are caused by mutations in the genes that encode type IX collagen, cartilage oligomeric matrix protein, and matrilin\u20103: <jats:italic>COL9A1<\/jats:italic>, <jats:italic>COL9A2<\/jats:italic>, <jats:italic>COL9A3<\/jats:italic>, <jats:italic>COMP<\/jats:italic>, and <jats:italic>MATN3<\/jats:italic>, respectively. Splicing mutations have been identified in all three genes encoding type IX collagen and are restricted to specific exons encoding an equivalent region of the COL3 domain in all three \u03b1(IX) chains. MED has been associated with mild myopathy in some families, in particular one family with a <jats:italic>COL9A3<\/jats:italic> mutation and two families with C\u2010terminal COMP mutations. In this study we have identified <jats:italic>COL9A2<\/jats:italic> mutations in two families with MED that also have osteochondritis dissecans and mild myopathy. This study therefore extends the range of gene\u2010mutations that can cause MED\u2010related myopathy. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33240","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T18:17:59Z","timestamp":1269627479000},"page":"863-869","source":"Crossref","is-referenced-by-count":47,"title":["Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy"],"prefix":"10.1002","volume":"152A","author":[{"given":"Gail 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