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A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects

Publications / A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects

Glycosylation defects are a recognized cause of congenital myasthenic syndrome (CMS), affecting the stability and functions of the neuromuscular junction proteins. Mutations in five genes (GFPT1, DPAGT1, GMPPB, ALG2, and ALG14) are currently associated with glycosylation-related CMS. This cohort describes Iranian patients with CMS and variants in these genes.