DPAGT1 and DPAGT1-congenital disorder of glycosylation: In human populations, DPAGT1 missense mutations are associated with limb girdle congenital myasthenic syndrome-13 (CMS13; OMIM 614750) and congenital disorders of glycosylation type Ij (CDG1J; OMIM 608093), both characterized by defects in cognitive and in motor abilities [17,18,19,20].