Congenital myasthenia with postsynaptic defect (Q92759): Difference between revisions
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Revision as of 07:53, 16 August 2026
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 |
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| 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. |
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CID11:ID_686257112
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