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
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
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S et al.
Journal of Neurology, 2017
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Maselli RA et al.
Clinical Genetics, 2014
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.
Selcen D et al.
Neurology, 2013
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