Disease-gene associations mined from literature

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,  CMS Ic,  CMS5,  EAD ...