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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.

Original publication

DOI

10.1016/j.nmd.2013.03.003

Type

Journal article

Journal

Neuromuscul Disord

Publication Date

06/2013

Volume

23

Pages

469 - 472

Keywords

Adolescent, Child, Child, Preschool, Female, Humans, Male, Mutation, Myasthenic Syndromes, Congenital, N-Acetylglucosaminyltransferases, Neuromuscular Junction, Pedigree