Associated Papers
A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Zhang J et al.
Orphanet Journal of Rare Diseases, 2025
40442802 (PubMed )
Supplement: 13023_2025_3823_MOESM1_ESM.docx
Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
Jiang K et al.
Brain and Behavior, 2022
34978387 (PubMed )
Supplement: BRB3-12-e2469-s001.pdf
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.
Luo HY et al.
Neuromuscular Disorders : Nmd, 2019
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