Congenital endplate acetylcholine receptor deficiency (Q92748): Difference between revisions
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A deficiência congênita do receptor de acetilcolina da placa motora é causada pela interrupção da via que se acredita ser responsável pela estabilidade da arquitetura sináptica e pela agregação e posicionamento dos receptores de acetilcolina na membrana pós-sináptica. Os defeitos moleculares envolvem várias proteínas pós-sinápticas e levam à deficiência do receptor com ou sem defeitos cinéticos ou causam anormalidades cinéticas com ou sem deficiência de receptores menores de acetilcolina | |||
| description / en | description / en | ||
Congenital endplate acetylcholine receptor deficiency is caused by the interruption of the pathway that is believed to be responsible for the stability of the synaptic architecture and for the aggregation and positioning of acetylcholine receptors on the post-synaptic membrane. Molecular defects involves several postsynaptic proteins and lead to either deficiency of the receptor with or without kinetic defects or cause kinetic abnormalities with or without minor acetylcholine receptors deficiency. | |||
Revision as of 07:52, 16 August 2026
Congenital endplate acetylcholine receptor deficiency is caused by the interruption of the pathway that is believed to be responsible for the stability of the synaptic architecture and for the aggregation and positioning of acetylcholine receptors on the post-synaptic membrane. Molecular defects involves several postsynaptic proteins and lead to either deficiency of the receptor with or without kinetic defects or cause kinetic abnormalities with or without minor acetylcholine receptors deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1122219867 |
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| English | Congenital endplate acetylcholine receptor deficiency |
Congenital endplate acetylcholine receptor deficiency is caused by the interruption of the pathway that is believed to be responsible for the stability of the synaptic architecture and for the aggregation and positioning of acetylcholine receptors on the post-synaptic membrane. Molecular defects involves several postsynaptic proteins and lead to either deficiency of the receptor with or without kinetic defects or cause kinetic abnormalities with or without minor acetylcholine receptors deficiency. |
