congenital myasthenic syndrome 4B (DOID:0110677)
Alliance: disease page
Synonyms: CMS4B; congenital myasthenic syndrome 4B fast-channel
Alt IDs: OMIM:616324
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.