title: Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
abstract: Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder - congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms restricted to muscle weakness resulting from defective neuromuscular transmission. We report four cases from a large Iranian pedigree with prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1, c.652C>T, p.Arg218Trp. This myasthenic syndrome may mimic myopathic disorders and is likely under-diagnosed.
authors.affiliation: Neurology Department, Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Keivan
authors.initials: K
authors.lastname: Basiri
authors.forename: Katsiaryna
authors.initials: K
authors.lastname: Belaya
authors.forename: Wei Wei
authors.initials: WW
authors.lastname: Liu
authors.forename: Susan
authors.initials: S
authors.lastname: Maxwell
authors.forename: Maryam
authors.initials: M
authors.lastname: Sedghi
authors.forename: David
authors.initials: D
authors.lastname: Beeson
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D009469:Neuromuscular Junction / Q000235:genetics*; D010375:Pedigree
chemical_list: D017351:N-Acetylglucosaminyltransferases; C047835:dolichyl-phosphate alpha-N-acetylglucosaminyltransferase