Congenital myasthenia with presynaptic defect (Q92757)
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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 |
||
| 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. |
Statements
CID11:ID_1231819833
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dki-india-ID_1231819833
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Concluído
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15 August 2026
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