Term Name:	congenital myasthenic syndrome 2A
Synonyms:	CMS2A, congenital myasthenic syndrome 2A slow-channel
Definition:	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
Ontology:	Human Disease [DOID:0110681]   ( DOID:0110681 )