Associated Papers
GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights.
Calikusu FZ et al.
Acta Neurologica Belgica, 2025
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
Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.
Vallepu SB et al.
Acta Neurologica Belgica, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases.
Bricoune O et al.
Advances in Pediatrics, 2023
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Wei XJ et al.
Frontiers in Neurology, 2023
Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.
Huang K et al.
Journal of Cellular and Molecular Medicine, 2022
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
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szelinger S et al.
Neurology. Genetics, 2020
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
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.
Selcen D et al.
Neurology, 2013
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
Pregnancy in congenital myasthenic syndrome.
Servais L et al.
Journal of Neurology, 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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