congenital myasthenic syndrome 5

Term ID

DOID:0110667

Synonyms

• CMS Ic
• CMS5
• congenital myasthenic syndrome Engel type
• congenital myasthenic syndrome type Ic
• EAD
• end plate acetylcholinesterase deficiency
• Engel congenital myasthenic syndrome

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. https://www.ncbi.nlm.nih.gov/pubmed/25792100

References

• OMIM:603034

Ontology

Human Disease   ( DOID:0110667 )