Human genes for congenital myasthenic syndrome 3A
Congenital myasthenic syndrome 3A [DOID:0110666]
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.
Synonyms: congenital myasthenic syndrome 3A, DOID:0110666, CMS3A, congenital myasthenic syndrome 3A, slow-channel, congenital myasthenic syndrome 3A slowchannel ...