congenital myasthenic syndrome 13

Term ID

DOID:0110676

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. (2)

References

• OMIM:614750

Ontology

Human Disease   ( DOID:0110676 )