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Article

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

BMC medical genomics - 12 Aug 2024

Muntadas Javier A, Hyland Martin R, Martínez Maria Del Rosario Ortolá, Young Jaime N, Chong Jessica X, Bamshad Michael J, Maselli Ricardo A

Abstract excerpt

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 the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene,...

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Identifiers

PMID: 39135055
DOI: 10.1186/s12920-024-01977-6
PMCID: PMC11318227

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