Congenital myasthenia with presynaptic defect (Q92757): Difference between revisions
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As Síndromes Miastênicas Congênitas (SMC) puramente pré-sinápticas são menos frequentes, representando apenas 6% de todos os casos, incluindo defeitos na liberação vesicular evocada de de acetilcolina (ACh) ou ressíntese de ACh devido à colina acetiltransferase, escassez de vesículas sinápticas e SMC tipo Lambert-Eaton | |||
| description / en | description / en | ||
The purely presynaptic CMS are least frequent, accounting for only 6% of all cases, include defects in evoked release of acetylcholine (ACh) quanta or ACh resynthesis due to choline acetyltransferase, paucity of synaptic vesicles and Lambert-Eaton-like CMS. | |||
Revision as of 07:53, 16 August 2026
The purely presynaptic CMS are least frequent, accounting for only 6% of all cases, include defects in evoked release of acetylcholine (ACh) quanta or ACh resynthesis due to choline acetyltransferase, paucity of synaptic vesicles and Lambert-Eaton-like CMS.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1231819833 |
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| English | Congenital myasthenia with presynaptic defect |
The purely presynaptic CMS are least frequent, accounting for only 6% of all cases, include defects in evoked release of acetylcholine (ACh) quanta or ACh resynthesis due to choline acetyltransferase, paucity of synaptic vesicles and Lambert-Eaton-like CMS. |
