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
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
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szelinger S et al.
Neurology. Genetics, 2020
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
Helman G et al.
Neurology, 2019
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S et al.
Journal of Neurology, 2017
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
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V et al.
Journal of Neurology, 2012
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J et al.
American Journal of Human Genetics, 2011
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