Term Name:	congenital myasthenic syndrome 13
Synonyms:	CMS13, CMSTA2, congenital myasthenic syndrome 13 with tubular aggregates, congenital myasthenic syndrome with tubular aggregates 2
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
Ontology:	Human Disease [DOID:0110676]   ( DOID:0110676 )