Term Name:	congenital myasthenic syndrome 4B
Synonyms:	CMS4B, congenital myasthenic syndrome 4B fast-channel
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Ontology:	Human Disease [DOID:0110677]   ( DOID:0110677 )