Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report
Katharine Torrey, Rachel Logan, Emmanuelle Tiongson, John V Dennison, Andrew Fischer, Nieraj Jain, Matthew Schniederjan, Ricardo A Maselli, Sumit Verma · 2026
Read Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report by Katharine Torrey, Rachel Logan, Emmanuelle Tiongson, John V Dennison, Andrew Fischer, Nieraj Jain, Matthew Schniederjan, Ricardo A Maselli, Sumit Verma (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13437851.txt.
Description
Torrey and co-authors describe a 5-year-old boy whose congenital myasthenic syndrome, a genetic failure of nerve-to-muscle signaling, came from a previously unreported variant in the GFPT1 gene. He presented with low muscle tone, progressive weakness including head drop, cognitive delay, and visual impairment, a combination broader than the classic picture for this gene.
A neuromuscular gene panel found a homozygous missense variant, catalogued as c.1154G>A, and trio sequencing confirmed the recessive inheritance pattern in the family. Brain imaging showed white matter abnormalities with shrinkage of the corpus callosum and cerebellum, features resembling a severe muscular dystrophy group called alpha-dystroglycanopathy. Electrical jitter testing of an eye muscle proved the transmission defect at the neuromuscular junction, while his muscle biopsy notably lacked the tubular aggregates typical of GFPT1 disease. The authors define a muscle-eye-brain form of the syndrome from this case.
Catalog record
| CREATOR | Katharine Torrey, Rachel Logan, Emmanuelle Tiongson, John V Dennison, Andrew Fischer, Nieraj Jain, Matthew Schniederjan, Ricardo A Maselli, Sumit Verma |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 23 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |