congenital myasthenic syndrome 2A (DOID:0110681)
Alliance: disease page
Synonyms: CMS2A; congenital myasthenic syndrome 2A slow-channel
Alt IDs: OMIM:616313
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.