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Article

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

Journal of medical genetics - 1 Dec 2005

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen M A, Verrips A, Walsh C A, Barth P G, Brunner H G, van Bokhoven H

Abstract excerpt

BACKGROUND: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration, which causes a cobblestone cortex. Ocular abnormalities include...

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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: 15894594
DOI: 10.1136/jmg.2005.031963
PMCID: PMC1735967

Genes

POMT2
POMT1
FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Walker-Warburg syndrome.Semantic proximity Read ↗

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Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.Semantic proximity Read ↗

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

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