congenital myasthenic syndrome 3A (DOID:0110666)
Alliance: disease page
Synonyms: CMS3A; congenital myasthenic syndrome 3A, slow-channel
Alt IDs: OMIM:616321
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.