DPAGT1 encodes dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1, an enzyme involved in the early steps of the asparagine-linked (N-linked) glycosylation pathway [5], and it is proposed that impaired glycosylation of the muscle acetylcholine receptor is a primary pathogenic mechanism in this form of CMS [4]. The gene discussed is DPAGT1; the disease is congenital myasthenic syndrome.