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...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2024-08-01T00:00:00Z.
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