COL12A1 and Bethlem myopathy: It has recently been associated with variants of the COL12A1 gene, which are referred to as myopathic Ehlers-Danlos syndrome (mEDS; OMIM 616470), Ullrich congenital muscular dystrophy-2 (UCMD2), and Bethlem myopathy-2 (BTHLM2; 616471).