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Article

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Brain : a journal of neurology - 1 Jan 2013

Cirak Sebahattin, Foley Aileen Reghan, Herrmann Ralf, Willer Tobias, Yau Shu, Stevens Elizabeth, Torelli Silvia, Brodd Lina, Kamynina Alisa, Vondracek Petr, Roper Helen, Longman Cheryl, Korinthenberg Rudolf, Marrosu Gianni, Nürnberg Peter, Michele Daniel E, Plagnol Vincent, Hurles Matt, Moore Steven A, Sewry Caroline A, Campbell Kevin P, Voit Thomas, Muntoni Francesco

Abstract excerpt

Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the f...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23288328
DOI: 10.1093/brain/aws312
PMCID: PMC3562076

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23288328-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.PMID 23288328Read ↗

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