COL6A1 and hyperinsulinemic hypoglycemia, familial, 4: Mutations in the COL6A1, COL6A2, and COL6A3 genes, encoding chains of collagen VI, are associated with Ullrich congenital muscular dystrophy and Bethlem myopathy, a severe and mild form of collagen VI deficiency, respectively (Bönnemann, 2011; Bernardi and Bonaldo, 2013).