Congenital myasthenic syndrome with glycosylation deficiency (Q92753)

Congenital myasthenic syndromes with glycosylation deficiency include GFPT1 defect, DPAGT1 defect, ALG2 defect, and ALG14 defect. Loss-of-function mutations of these genes combine a limb–girdle pattern of autosomal recessively inherited myasthenia and tubular aggregates on muscle biopsies.