Mutations of the COL6A1-COL6A6 genes, encoding COL6 subunits, are known to be causative for a distinct subtype of congenital muscular dystrophies, including Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD) (Jöbsis et al., 1996; Camacho Vanegas et al., 2001; Merlini et al., 2008). This evidence concerns the gene COL6A1 and Congenital muscular dystrophy, Ullrich type.