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congenital myasthenic syndrome 4C
Summary
- Synonym
-
- CMS Id
- CMS1D
- CMS4C
- FIM1
- congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
- congenital myasthenic syndrome type Id
- familial infantile myasthenia 1
- 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 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:0110679
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04844 | Acetylcholine receptor subunit epsilon |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20782 | Acetylcholine receptor subunit epsilon |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0011968 | Feeding difficulties |
| HP:0000689 | Dental malocclusion |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0000303 | Mandibular prognathia |
| HP:0003388 | Easy fatigability |
| HP:0003680 | Nonprogressive |
| HP:0001290 | Generalized hypotonia |
| HP:0000218 | High palate |
| HP:0003199 | Decreased muscle mass |
