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Article

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2013

Finlayson Sarah, Palace Jacqueline, Belaya Katsiaryna, Walls Timothy J, Norwood Fiona, Burke Georgina, Holton Janice L, Pascual-Pascual Samuel I, Cossins Judith, Beeson David

Abstract excerpt

BACKGROUND: A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement. METHODS: We present detailed clinical characteristics of five...

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Source

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Identifiers

PMID: 23447650
DOI: 10.1136/jnnp-2012-304716
PMCID: PMC6044426

Genes

DPAGT1
GFPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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