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]. The gene discussed is COL6A3; the disease is Ullrich congenital muscular dystrophy.