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Article

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Neuromuscular disorders : NMD - 1 Jun 2013

Basiri Keivan, Belaya Katsiaryna, Liu Wei Wei, Maxwell Susan, Sedghi Maryam, Beeson David

Abstract excerpt

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...

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Source

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Identifiers

PMID: 23591138
DOI: 10.1016/j.nmd.2013.03.003
PMCID: PMC3746154

Genes

DPAGT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.PMID 23591138Read ↗

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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Semantic proximity Read ↗

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.Semantic proximity Read ↗

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.Semantic proximity Read ↗

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.Semantic proximity Read ↗

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