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Browse result for Congenital myasthenic syndrome
※ introduction 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).
Reference
DiseaseOntology: Congenital myasthenic syndrome
Reference
DiseaseOntology: Congenital myasthenic syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02311 | O00468 | 37579 | AGRN | Agrin [Cleaved into: Agrin N-terminal 110 kDa subunit; Agrin C-terminal 110 kDa subunit; Agrin C-terminal 90 kDa fragment ; Agrin C-terminal 22 kDa fragment ] | Homo sapiens |
| PTMD06241 | Q06210 | 2673 | GFPT1 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 | Homo sapiens |
