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Article

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

European journal of medical genetics - 1 Dec 2013

Czeschik Johanna Christina, Hehr Ute, Hartmann Britta, Lüdecke Hermann-Josef, Rosenbaum Thorsten, Schweiger Bernd, Wieczorek Dagmar

Abstract excerpt

Walker-Warburg syndrome (WWS) is a severe muscular dystrophy with eye and brain malformations. On a molecular level, WWS is a disorder of the O-linked glycosylation of α-dystroglycan and therefore referred to as one of the dystroglycanopathies. The disease family of muscular dystrophy-dystroglycanopathy (MDDG) contains a spectrum of severe to mild disorders, designated as MDDG type A to C. WWS, as the most severe...

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

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Source

Identifiers

PMID: 24120487
DOI: 10.1016/j.ejmg.2013.09.014

Genes

FKRP
FKTN
GMPPB
POMGNT1
POMT1
POMT2

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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160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.PMID 24120487Read ↗

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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.Semantic proximity Read ↗

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Semantic proximity Read ↗

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