Associated Papers
A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Zhang J et al.
Orphanet Journal of Rare Diseases, 2025
40442802 (PubMed )
Supplement: 13023_2025_3823_MOESM1_ESM.docx
Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases.
Bricoune O et al.
Advances in Pediatrics, 2023
Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
Jiang K et al.
Brain and Behavior, 2022
Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.
An R et al.
Frontiers in Neurology, 2022
36188410 (PubMed )
Supplement: Data_Sheet_1.PDF
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
Zoltowska K et al.
Human Molecular Genetics, 2013
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J et al.
American Journal of Human Genetics, 2011
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