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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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001260 | Dysarthria |
| HP:0001612 | Weak cry |
| HP:0003394 | Muscle spasm |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0003473 | Fatigable weakness |
| HP:0001252 | Hypotonia |
| HP:0003828 | Variable expressivity |
| HP:0001558 | Decreased fetal movement |
| HP:0000486 | Strabismus |
