Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Gene data from MyGene.info • Click to view on NCBI Gene
congenital myasthenic syndrome 12
MONDO:0012518
congenital myasthenic syndrome 14
MONDO:0014543