congenital myasthenic syndrome 4A (DOID:0110678)
Alliance: disease page
Synonyms: CMS1A1; CMS4A; CMS Ia1; congenital myasthenic syndrome 4A slow-channel; congenital myasthenic syndrometype Ia1
Alt IDs: OMIM:605809
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.