Human genes for congenital myasthenic syndrome 5
Congenital myasthenic syndrome 5 [DOID:0110667]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
Synonyms: congenital myasthenic syndrome 5, DOID:0110667, CMS5, CMS Ic, congenital myasthenic syndrome Engel type ...