The pathogenesis of MEB is related to an abnormal level of α‐dystroglycan glycosylation. Genetic mutations of the POMGnT1 gene reduced the O-mannosyl glycosylation of α-dystroglycan. The POMGnT1 gene encodes the enzyme POMGnT1, a type II transmembrane protein residing in the Golgi Apparatus. The role of the enzyme POMGnT1 is to catalyse glycosylation specific for alpha-linked terminal mannose, the process where N-acetylglucosamine is added to O-linked mannose of α-dystroglycan. In humans, O-mannosylation is a rare type of glycosylation, occurring in skeletal<unk> ,<unk>  and nerve glycoproteins. O-mannosylation is used to increase the stability of the interaction between the extracellular basement membrane and α-dystroglycan. Without stabilization, the glycoprotein cannot anchor to the cell, leading to congenital muscular dystrophy (CMD), characterised by severe<unk>  malformations.
Muscle–eye–brain disease
Basal ganglia disease
White dot syndromes
Aging brain
Early myoclonic encephalopathy
Neurolathyrism
Leukodystrophy
Wernicke encephalopathy