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Repository for lectin-assisted multimodality data
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MIRAGE
congenital myasthenic syndrome
Summary
- Definition
- A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
- Super Class
- neuromuscular junction disease physical disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| B2RTY4 | Unconventional myosin-IXa | |
| Q04844 | Acetylcholine receptor subunit epsilon | |
| Q8N9I0 | Synaptotagmin-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q98880 | Acetylcholine receptor subunit alpha |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9N587 | Acetylcholine receptor subunit alpha-type unc-63 |
