A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant
Abstract Background Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key enzyme initiating protein O- and N-glycosylation at the postsynaptic membrane. Variants in GFPT1 gene cause congenital myasthenic (GFPT1-CMS). However, the understanding of the phenotype and genetic spectrum of GFPT...
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| Asıl Yazarlar: | , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2025-05-01
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| Seri Bilgileri: | Orphanet Journal of Rare Diseases |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13023-025-03823-z |
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