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Article

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

Journal of medical genetics - 1 Nov 2003

de Bernabé D Beltrán-Valero, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns W B, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner H G

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

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Identifiers

PMID: 14627679
DOI: 10.1136/jmg.40.11.845
PMCID: PMC1735302

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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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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.PMID 14627679Read ↗

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.Semantic proximity Read ↗

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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.Semantic proximity Read ↗

[Identification of a gene for Fukuyama congenital muscular dystrophy and its pathomechanism].Semantic proximity Read ↗

Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.Semantic proximity Read ↗

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Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.Semantic proximity Read ↗

Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.Semantic proximity Read ↗

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