Search Ontology:
Human Disease
congenital myasthenic syndrome 5
- Term ID
- DOID:0110667
- Synonyms
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- 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
- Ontology
- Human Disease ( DOID:0110667 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models