congenital myasthenic syndrome 2C (DOID:0110680)
Alliance: disease page
Synonyms: CMS2C; congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616314
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.