Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report

Journal of Neuromuscular Diseases · Published 2026-06-05 · DOI 10.1177/22143602261457200

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Authors (9)

Katharine Torrey, Rachel Logan, Emmanuelle Tiongson, John V. Dennison, Andrew Fischer, Nieraj Jain, Matthew Schniederjan, Ricardo A. Maselli, Sumit Verma

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Publication details

Year

2026

Citation

Torrey, K., Logan, R., Tiongson, E., et al. (2026). Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602261457200

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