|Name||congenital myasthenic syndrome 5|
|Definition||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.
CMS Ic [EXACT]
congenital myasthenic syndrome Engel type [EXACT]
congenital myasthenic syndrome type Ic [EXACT]
end plate acetylcholinesterase deficiency [EXACT]
Engel congenital myasthenic syndrome [EXACT]