Associated Papers
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 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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