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congenital myasthenic syndrome 4B
Summary
- Synonym
-
- CMS4B
- congenital myasthenic syndrome 4B fast-channel
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110677
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 42918 | nAChRalpha1 | nicotinic Acetylcholine Receptor alpha1 | |
| 42919 | nAChRalpha2 | nicotinic Acetylcholine Receptor alpha2 | |
| 42920 | nAChRbeta2 | nicotinic Acetylcholine Receptor beta2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001324 | Muscle weakness |
| HP:0002878 | Respiratory failure |
| HP:0000597 | Ophthalmoparesis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0002329 | Drowsiness |
| HP:0000496 | Abnormality of eye movement |
| HP:0003388 | Easy fatigability |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0000961 | Cyanosis |
