Congenital myasthenia with postsynaptic defect (Q92759): Difference between revisions
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A miastenia congênita com defeito pós-sináptico é responsável por 60% dos casos e inclui: Anomalias cinéticas do receptor de acetilcolina (AChR) (canal lento, canal rápido), deficiência de AChR, síndrome de Escobar, deficiência de Rapsina, miastenia do canal de sódio, anomalias da quinase muscular específica (MuSK ), Miastenia de cintura relacionada a DOK-7, SMC relacionada ao receptor da proteína 4 relacionada a lipoproteína de baixa densidade (LRP4), miopatia centronuclear e transmissão neuromuscular prejudicada e deficiência de plectina. | |||
| description / en | description / en | ||
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. | |||
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. |
