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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:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0003722 | Neck flexor weakness |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0002650 | Scoliosis |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0012515 | Hip flexor weakness |
| HP:0002875 | Exertional dyspnea |
| HP:0003484 | Upper limb muscle weakness |
| HP:0002194 | Delayed gross motor development |
