Mutations in GMPPB can cause muscular dystrophy-dystroglycanopathy [MDDGA14 (MIM 615350), MDDGB14 (MIM 615351), MDDGC14 (MIM 615352)] (Carss et al., 2013; Raphael et al., 2014). This evidence concerns the gene GMPPB and Congenital muscular dystrophy due to dystroglycanopathy.