Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases
Abstract Background Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is...
| Үндсэн зохиолчид: | , , , , , , |
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| Формат: | Өгүүллэг |
| Хэл сонгох: | English |
| Хэвлэсэн: |
BMC
2024-08-01
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| Цуврал: | BMC Medical Genomics |
| Нөхцлүүд: | |
| Онлайн хандалт: | https://doi.org/10.1186/s12920-024-01977-6 |