Condition: MYASTHENIC SYNDROME, CONGENITAL, 12
rs1011196447 in
GFPT1 gene and
MYASTHENIC SYNDROME, CONGENITAL, 12
PMID 28464723 2017 Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
PMID 23794683 2013 GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.
PMID 21310273 2011 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
PMID 25765662 2015 A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
PMID 23488891 2014 Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
PMID 28712002 2017 Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.