In addition, a defect in β1-2 GlcNAc-transferase (POMGNT1) has also been related to muscle–eye–brain disease characterized by congenital muscular dystrophy (CMD), ocular abnormalities and brain malformation (type II lissencephaly) [89, 95, 96]. This evidence concerns the gene POMGNT1 and congenital muscular dystrophy.