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Article

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Annals of the New York Academy of Sciences - 1 Dec 2012

Belaya Katsiaryna, Finlayson Sarah, Cossins Judith, Liu Wei Wei, Maxwell Susan, Palace Jacqueline, Beeson David

Abstract excerpt

Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogenous group of disorders with 15 different genes implicated in the development of the disease. Using whole-exome sequencing we identified DPAGT1 as a new gene associated with CMS. DPAGT1 catalyses...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Share to Sequence Homology, Amino Acid

Share to Transferases (Other Substituted Phosphate Groups)

Source

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Identifiers

PMID: 23278575
DOI: 10.1111/j.1749-6632.2012.06790.x
PMCID: PMC6044425

Genes

DPAGT1

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.

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Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.PMID 23278575Read ↗

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