COL6A1 and Congenital muscular dystrophy, Ullrich type: Mutations in any of the three genes (COL6A1, COL6A2, and COL6A3) coding for collagen VI, a major extracellular matrix protein of the endomysium of skeletal muscles, cause the collagen VI-related myopathies [1] including Bethlem myopathy (BM), Ullrich congenital muscular dystrophy (UCMD), and the two rarer variants limb girdle and myosclerosis myopathy [2, 3].