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Article

Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation.

Neuromuscular disorders : NMD - 1 Nov 2021

Shelton G Diane, Minor Katie M, Guo Ling T, Friedenberg Steven G, Cullen Jonah N, Hord Jeffrey M, Venzke David, Anderson Mary E, Devereaux Megan, Prouty Sally J, Handelman Caryl, Campbell Kevin P, Mickelson James R

Abstract excerpt

Alpha-dystroglycan (αDG) is a highly glycosylated cell surface protein with a significant role in cell-to-extracellular matrix interactions in muscle. αDG interaction with extracellular ligands relies on the activity of the LARGE1 glycosyltransferase that synthesizes and extends the heteropolysaccharide matriglycan. Abnormalities in αDG glycosylation and formation of matriglycan are the pathogenic mechanisms for...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 34654610
DOI: 10.1016/j.nmd.2021.07.016
PMCID: PMC8963908

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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