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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
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:0012764 | Orthopnea |
| HP:0002329 | Drowsiness |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0003388 | Easy fatigability |
| HP:0010628 | Facial palsy |
| HP:0002792 | Reduced vital capacity |
| HP:0003458 | EMG: myopathic abnormalities |
