congenital myasthenic syndrome 1A (DOID:0110663)
Alliance: disease page
Synonyms: CMS1A; CMS IIa; congenital myasthenic syndrome 1A, slow-channel; congenital myasthenic syndrome type IIa
Alt IDs: OMIM:601462
Definition: A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.