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Article

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Human genetics - 1 Jul 2007

van Reeuwijk Jeroen, Grewal Prabhjit K, Salih Mustafa A M, Beltrán-Valero de Bernabé Daniel, McLaughlan Jenny M, Michielse Caroline B, Herrmann Ralf, Hewitt Jane E, Steinbrecher Alice, Seidahmed Mohamed Z, Shaheed Mohamed M, Abomelha Abdullah, Brunner Han G, van Bokhoven Hans, Voit Thomas

Abstract excerpt

Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of alpha-dystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patie...

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Source

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Identifiers

PMID: 17436019
DOI: 10.1007/s00439-007-0362-y
PMCID: PMC1914248

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17436019-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.PMID 17436019Read ↗

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Rewiring enervated: thinking LARGEr than myodystrophy.Semantic proximity Read ↗

Investigating the functions of LARGE: lessons from mutant mice.Semantic proximity Read ↗

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.Semantic proximity Read ↗

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndromeSemantic proximity Read ↗

Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy.Semantic proximity Read ↗

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.Semantic proximity Read ↗

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.Semantic proximity Read ↗

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Semantic proximity Read ↗

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

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.Semantic proximity Read ↗

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.Semantic proximity Read ↗

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