congenital myasthenic syndrome 1B (DOID:0110662)
Alliance: disease page
Synonyms: CMS1B; congenital myasthenic syndrome 1B, fast-channel
Alt IDs: OMIM:608930
Definition: A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.