Myasthenic Syndrome, Congenital, 13 (CMS13)

Myasthenic Syndrome, Congenital, 13, also known as congenital myasthenic syndrome 13, is related to congenital disorder of glycosylation, type ij and congenital myasthenic syndrome 7. An important gene associated with Myasthenic Syndrome, Congenital, 13 is DPAGT1 (Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1), and among its related pathways/superpathways are Acetylcholine binding and downstream events and ErbB2/ErbB3 signaling events. Affiliated tissues include skeletal muscle and brain, and related phenotypes are proximal muscle weakness and muscle fiber tubular inclusions