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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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 6576 | SLC25A1 | solute carrier family 25 member 1 | |
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | |
| 199857 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
Related Glycoprotein
