congenital myasthenic syndrome 13 (DOID:0110676)
Alliance: disease page
Synonyms: CMS13; CMSTA2; congenital myasthenic syndrome 13 with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 2
Alt IDs: OMIM:614750
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.