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Bethlem myopathy (BM) is a slowly progressive disorder characterized by contractures and a proximal myopathy, which can be caused by mutations in one of the collagen VI genes (COL6A1, COL6A2, and COL6A3), although genetic heterogeneity is predicted to be as high as 50%. Using whole exome sequencing (WES) we have identified mutations in a novel gene, COL12A1, a member of the FACIT collagens (fibril-associated...