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Article

Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.

BMC neurology - 17 Jun 2024

Tian Sheng, Sun Huan, Gao Fen-Fang, Zhang Kang, Nan Jing, Niu Mu, Jia Xiao, Xu Gang, Ge Wei

Abstract excerpt

BACKGROUND: Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to be reported in related cases. This study aims to explore the clinical phenotype and genetic traits of a patient with congenital myasthenic syndrome due to SLC5A7 gene...

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Identifiers

PMID: 38886633
DOI: 10.1186/s12883-024-03716-x
PMCID: PMC11181541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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