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Article

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Annals of neurology - 1 Nov 2008

Clement Emma, Mercuri Eugenio, Godfrey Caroline, Smith Janine, Robb Stephanie, Kinali Maria, Straub Volker, Bushby Kate, Manzur Adnan, Talim Beril, Cowan Frances, Quinlivan Ros, Klein Andrea, Longman Cheryl, McWilliam Robert, Topaloglu Haluk, Mein Rachael, Abbs Stephen, North Kathryn, Barkovich A James, Rutherford Mary, Muntoni Francesco

Abstract excerpt

OBJECTIVE: To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7), Fukutin (4), or LARGE (3), responsible for muscular dystrophies with abnormal glycosylation of dystroglycan (dystroglycanopathies). METHODS: Blinded review of magnetic resonance imaging brain scans from 27 patients with mutations in 1 of...

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

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Source

Identifiers

PMID: 19067344
DOI: 10.1002/ana.21482

Genes

POMT2
POMT1

Provenance

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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