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Article

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1.

Muscle & nerve - 1 Sept 2026

Ohno Kinji, Nazim Mohammad, Zhang Ruchen, Farshadyeganeh Paniz, Ito Mikako, Ohkawara Bisei

Abstract excerpt

Glutamine:fructose-6-phosphate transaminase 1 (GFPT1) catalyzes the first and rate-limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP-GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1-L). In contrast, a short isoform (GFPT1-S) is generated in the other tissues. GFPT1-L was likely acquired in evolution to suppress the HBP in...

Read the complete abstract on PubMed

Topics

Humans
Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)
Myasthenic Syndromes, Congenital
Animals
Female
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Male

Mutation

Adolescent

Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 42387671
DOI: 10.1002/mus.70065
PMCID: PMC13599463

Genes

GFPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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