Article

A cohort of GFPT1 related Congenital Myasthenic Syndrome in China: High Frequency of c.331C>T Variant

2025-03-17

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold>Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key enzyme initiating protein O- and N-glycosylation at the postsynaptic membrane. Variants in<italic> GFPT1</italic> gene cause congenital myasthenic (GFPT1-CMS). However, the understanding of the phenotype and genetic spectrum of GFPT1-CMS remains limited. <bold>Methods</bold>: A total of 24 patients...

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Literature Corpus work: 52ac58f4-e6d9-51f4-bdcb-6a8685fcc0b4
DOI: 10.21203/rs.3.rs-6152394/v1

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