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Article

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

Clinical genetics - 1 Sept 2010

Van Reeuwijk J, Olderode-Berends M J W, Van den Elzen C, Brouwer O F, Roscioli T, Van Pampus M G, Scheffer H, Brunner H G, Van Bokhoven H, Hol F A

Abstract excerpt

Dystroglycanopathies are a heterogeneous group of disorders caused by defects in the glycosylation pathway of alpha-dystroglycan. The clinical spectrum ranges from severe congenital muscular dystrophy with structural brain and eye involvement to a relatively mild adult onset limb-girdle muscular...

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Source

Identifiers

PMID: 20236121
DOI: 10.1111/j.1399-0004.2010.01384.x

Genes

FKRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20236121-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.PMID 20236121Read ↗

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