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MIRAGE
congenital myasthenic syndrome 7
Summary
- Synonym
-
- CMS7
- congenital myasthenic syndrome 7 presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110659
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N9I0 | Synaptotagmin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
| HP:0002882 | Sudden episodic apnea |
| HP:0003306 | Spinal rigidity |
| HP:0003324 | Generalized muscle weakness |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003388 | Easy fatigability |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003473 | Fatigable weakness |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
