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congenital myasthenic syndrome 4A
Summary
- Synonym
-
- CMS Ia1
- CMS1A1
- CMS4A
- congenital myasthenic syndrome 4A slow-channel
- congenital myasthenic syndrometype Ia1
- Definition
- A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
- Super Class
- autosomal dominant disease autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110678
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04844 | Acetylcholine receptor subunit epsilon |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20782 | Acetylcholine receptor subunit epsilon |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000597 | Ophthalmoparesis |
| HP:0001324 | Muscle weakness |
| HP:0000496 | Abnormality of eye movement |
| HP:0000961 | Cyanosis |
| HP:0000218 | High palate |
| HP:0000651 | Diplopia |
| HP:0001315 | Reduced tendon reflexes |
| HP:0000508 | Ptosis |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0002878 | Respiratory failure |
