Term Name:	congenital myasthenic syndrome 2C
Synonyms:	CMS2C, congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
Ontology:	Human Disease [DOID:0110680]   ( DOID:0110680 )