Associated Papers
Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
Jiang K et al.
Brain and Behavior, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
Mensch A et al.
Journal of Neuromuscular Diseases, 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
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