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MIRAGE
congenital myasthenic syndrome 3B
Summary
- Synonym
-
- CMS3B
- congenital myasthenic syndrome 3B, fast-channel
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110665
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07001 | Acetylcholine receptor subunit delta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0000651 | Diplopia |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0012515 | Hip flexor weakness |
| HP:0002875 | Exertional dyspnea |
| HP:0001315 | Reduced tendon reflexes |
| HP:0003484 | Upper limb muscle weakness |
| HP:0000508 | Ptosis |
| HP:0003402 | Decreased miniature endplate potentials |
| HP:0005659 | Thoracic kyphoscoliosis |
