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congenital myasthenic syndrome 2C
Summary
- Synonym
-
- CMS2C
- congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110680
- 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:0000508 | Ptosis |
| HP:0003402 | Decreased miniature endplate potentials |
| HP:0002194 | Delayed gross motor development |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003722 | Neck flexor weakness |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0005659 | Thoracic kyphoscoliosis |
| HP:0012515 | Hip flexor weakness |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0010628 | Facial palsy |
