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Article

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome

2 May 2015

Abstract excerpt

OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. METHODS: Homozygosity mapping and exome sequencing, followed by Sanger sequencing of the obtained candidate gene, was performed. Expression of the candidate gene was tested by reverse transcription PCR. Patient fibroblasts were converted to...

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PMID: 25934851
DOI: 10.1212/wnl.0000000000001615

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