Term Name:	congenital myasthenic syndrome 4A
Synonyms:	CMS Ia1, CMS1A1, CMS4A, congenital myasthenic syndrome 4A slow-channel, congenital myasthenic syndrometype Ia1
Definition:	A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
Ontology:	Human Disease [DOID:0110678]   ( DOID:0110678 )