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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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	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
Format:	Article
Language:	English
Published:	BMC 2025-05-01
Subjects:	Congenital myasthenic syndrome Glutamine-fructose-6-phosphate transaminase 1 Tubular aggregates Distal muscle weakness
Online Access:	https://doi.org/10.1186/s13023-025-03823-z