A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant

Abstract Background Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key enzyme initiating protein O- and N-glycosylation at the postsynaptic membrane. Variants in GFPT1 gene cause congenital myasthenic (GFPT1-CMS). However, the understanding of the phenotype and genetic spectrum of GFPT...

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Autori principali:	Jialong Zhang, Xinyu Chen, Chong Yan, Xinyu Gu, Wenhua Zhu, Xuwei Cao, Lei Zhou, Sushan Luo, Jie Lin, Zunbo Li, Jiahong Lu, Chongbo Zhao, Kai Qiao, Xuefan Yu, Jianying Xi
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2025-05-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	Congenital myasthenic syndrome Glutamine-fructose-6-phosphate transaminase 1 Tubular aggregates Distal muscle weakness
Accesso online:	https://doi.org/10.1186/s13023-025-03823-z
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