COL6A1 and cutaneous mastocytosis: Furthermore, in the CM group, we detected a likely pathogenic variant (c.5894G>A) in the COL12A1 gene, known to be associated with Bethlem myopathy and Ullrich congenital muscular dystrophy (Naghipoor et al., 2023), as well as a likely pathogenic variant (c.850G>A) in the COL6A1 gene, which causes Bethlem myopathy and Ullrich congenital muscular dystrophy (Lampe and Bushby, 2005; Butterfield et al., 2013).