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Article

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

Journal of medical genetics - 1 May 2004

Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns W B, Brunner H G, van Bokhoven H, Brockington M, Muntoni F

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Topics

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Share to Eye Abnormalities
Share to Magnetic Resonance Imaging
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophies

Share to Mutation, Missense

Share to Pentosyltransferases

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Source

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Identifiers

PMID: 15121789
DOI: 10.1136/jmg.2003.013870
PMCID: PMC1735772

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.PMID 15121789Read ↗

Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases.Semantic proximity Read ↗

Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61)Semantic proximity Read ↗

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.Semantic proximity Read ↗

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesSemantic proximity Read ↗

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.Semantic proximity Read ↗

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.Semantic proximity Read ↗

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.Semantic proximity Read ↗

Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.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 ↗

Functional implications of Fkrp deficiencySemantic proximity Read ↗

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelinationSemantic proximity Read ↗

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.Semantic proximity Read ↗

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