congenital myasthenic syndrome 3B (DOID:0110665)
Alliance: disease page
Synonyms: CMS3B; congenital myasthenic syndrome 3B, fast-channel
Alt IDs: OMIM:616322
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.