Congenital myasthenia with postsynaptic defect (Q92759)
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Congenital myasthenia with postsynaptic defect account for 60% of cases and include: Acetylcholine receptor (AChR) kinetic anomalies (slow channel, fast channel), AChR deficiency, Escobar syndrome, Rapsyn deficiency, Sodium channel myasthenia, anomalies of Muscle-specific kinase (MuSK), DOK-7 related limb–girdle myasthenia, Low density lipoprotein receptor-related protein 4 (LRP4)-related CMS, centronuclear myopathy and impaired neuromuscular transmission, and plectin deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_686257112 |
||
| English | Congenital myasthenia with postsynaptic defect |
Congenital myasthenia with postsynaptic defect account for 60% of cases and include: Acetylcholine receptor (AChR) kinetic anomalies (slow channel, fast channel), AChR deficiency, Escobar syndrome, Rapsyn deficiency, Sodium channel myasthenia, anomalies of Muscle-specific kinase (MuSK), DOK-7 related limb–girdle myasthenia, Low density lipoprotein receptor-related protein 4 (LRP4)-related CMS, centronuclear myopathy and impaired neuromuscular transmission, and plectin deficiency. |
Statements
CID11:ID_686257112
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dki-india-ID_686257112
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Concluído
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15 August 2026
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