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congenital myasthenic syndrome 1A
Summary
- Synonym
-
- CMS IIa
- CMS1A
- congenital myasthenic syndrome 1A, slow-channel
- congenital myasthenic syndrome type IIa
- Definition
- A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110663
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02708 | Acetylcholine receptor subunit alpha | |
| P20810 | Calpastatin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002091 | Restrictive ventilatory defect |
| HP:0000508 | Ptosis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000218 | High palate |
| HP:0002878 | Respiratory failure |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0000961 | Cyanosis |
| HP:0002650 | Scoliosis |
| HP:0000496 | Abnormality of eye movement |
