COL6A1/COL6A2/COL6A3 mutations cause severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy, which can be inherited as autosomal dominant or recessive disorders, but collagen VI mutations can also affect the skin and tendon [6]. Here, COL6A2 is linked to Ullrich congenital muscular dystrophy.