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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1103 | CHAT | choline O-acetyltransferase | |
| 1134 | CHRNA1 | cholinergic receptor nicotinic alpha 1 subunit | |
| 1135 | CHRNA2 | cholinergic receptor nicotinic alpha 2 subunit | |
| 1136 | CHRNA3 | cholinergic receptor nicotinic alpha 3 subunit | |
| 1137 | CHRNA4 | cholinergic receptor nicotinic alpha 4 subunit | |
| 1140 | CHRNB1 | cholinergic receptor nicotinic beta 1 subunit | |
| 1141 | CHRNB2 | cholinergic receptor nicotinic beta 2 subunit | |
| 1142 | CHRNB3 | cholinergic receptor nicotinic beta 3 subunit | |
| 1144 | CHRND | cholinergic receptor nicotinic delta subunit | |
| 1145 | CHRNE | cholinergic receptor nicotinic epsilon subunit |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11435 | Chrna1 | cholinergic receptor nicotinic alpha 1 subunit | |
| 11438 | Chrna4 | cholinergic receptor, nicotinic, alpha polypeptide 4 | |
| 11440 | Chrna6 | cholinergic receptor, nicotinic, alpha polypeptide 6 | |
| 11444 | Chrnb2 | cholinergic receptor nicotinic beta 2 subunit | |
| 11448 | Chrne | cholinergic receptor, nicotinic, epsilon polypeptide | |
| 20979 | Syt1 | synaptotagmin I | |
| 20980 | Syt2 | synaptotagmin II | |
| 110834 | Chrna3 | cholinergic receptor, nicotinic, alpha polypeptide 3 | |
| 110902 | Chrna2 | cholinergic receptor nicotinic alpha 2 subunit | |
| 270163 | Myo9a | myosin IXa |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24805 | Syt2 | synaptotagmin 2 | |
| 25590 | Chrna4 | cholinergic receptor nicotinic alpha 4 subunit | |
| 25716 | Syt1 | synaptotagmin 1 | |
| 29422 | Chrne | cholinergic receptor nicotinic epsilon subunit | |
| 79557 | Chrna1 | cholinergic receptor nicotinic alpha 1 subunit | |
| 81721 | Chrna6 | cholinergic receptor nicotinic alpha 6 subunit | |
| 170945 | Chrna2 | cholinergic receptor nicotinic alpha 2 subunit |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 38545 | nAChRbeta1 | nicotinic Acetylcholine Receptor beta1 | |
| 42918 | nAChRalpha1 | nicotinic Acetylcholine Receptor alpha1 | |
| 42919 | nAChRalpha2 | nicotinic Acetylcholine Receptor alpha2 | |
| 42920 | nAChRbeta2 | nicotinic Acetylcholine Receptor beta2 |
