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Article

DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.

Neurology - 20 May 2014

Selcen Duygu, Shen Xin-Ming, Brengman Joan, Li Ying, Stans Anthony A, Wieben Eric, Engel Andrew G

Abstract excerpt

OBJECTIVE: To investigate patients with DPAGT1 (UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)-associated myasthenic syndrome. METHODS: We performed exome and Sanger sequencing, determined glycoprotein expression in patient muscles, assessed pathogenicity of the mutant proteins by examining their expression and enzymatic activity in transfected cells, evaluated structural...

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Source

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Identifiers

PMID: 24759841
DOI: 10.1212/WNL.0000000000000435
PMCID: PMC4035711

Genes

DPAGT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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