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Metadata
ID DOID:0110667
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.
https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs

OMIM:603034

Synonyms

CMS Ic [EXACT]

CMS5 [EXACT]

congenital myasthenic syndrome Engel type [EXACT]

congenital myasthenic syndrome type Ic [EXACT]

EAD [EXACT]

end plate acetylcholinesterase deficiency [EXACT]

Engel congenital myasthenic syndrome [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

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