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MIRAGE
congenital myasthenic syndrome 1B
Summary
- Synonym
-
- CMS1B
- congenital myasthenic syndrome 1B, fast-channel
- Definition
- A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
- Super Class
- autosomal dominant disease autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110662
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02708 | Acetylcholine receptor subunit alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002091 | Restrictive ventilatory defect |
| HP:0010628 | Facial palsy |
| HP:0002792 | Reduced vital capacity |
| HP:0000961 | Cyanosis |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0000218 | High palate |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003722 | Neck flexor weakness |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0009077 | Weakness of long finger extensor muscles |
