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MIRAGE
congenital myasthenic syndrome 3A
Summary
- Synonym
-
- CMS3A
- congenital myasthenic syndrome 3A, slow-channel
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110666
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07001 | Acetylcholine receptor subunit delta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02716 | Acetylcholine receptor subunit delta |
- 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 |
