COL6A1 and Congenital muscular dystrophy, Ullrich type: It has been reported that the collagen VI-NG2 axis is disrupted in muscle [32] and tendon fibroblasts in UCMD patients affected by different ColVI mutations [7,33], including a heterozygous mutation exon8-intron 8 c.798_804+8del 15 in the COL6A1 gene (p.Pro254_Glu268 del), which removed the exon8-intron8 junction causing variable splicing phenotypes, consisting of exon skipping, intron retention and cryptic splice site activation/usage [34,35].