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Article

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

American journal of human genetics - 13 Jul 2012

Belaya Katsiaryna, Finlayson Sarah, Slater Clarke R, Cossins Judith, Liu Wei Wei, Maxwell Susan, McGowan Simon J, Maslau Siarhei, Twigg Stephen R F, Walls Timothy J, Pascual Pascual Samuel I, Palace Jacqueline, Beeson David

Abstract excerpt

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed whole-exome sequencing to determine the underlying defect in a group of individuals with an inherited limb-girdle pattern of myasthenic weakness. We identify DPAGT1 as a gene in which mutations...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22742743
DOI: 10.1016/j.ajhg.2012.05.022
PMCID: PMC3397259

Genes

DPAGT1
GFPT1

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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Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.PMID 22742743Read ↗

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

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