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congenital myasthenic syndrome 20
Summary
- Synonym
-
- CMS20
- congenital myasthenic syndrome 20 presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110661
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZV3 | High affinity choline transporter 1 |
- 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 |
