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Article

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.

Neurology - 20 Jan 2015

Dong Mingrui, Noguchi Satoru, Endo Yukari, Hayashi Yukiko K, Yoshida Shinobu, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

OBJECTIVES: To identify gene mutations in patients with dystroglycanopathy and prove pathogenicity of those mutations using an in vitro cell assay. METHODS: We performed whole-exome sequencing on 20 patients, who were previously diagnosed with dystroglycanopathy by immunohistochemistry and/or Western blot analysis. We also evaluated pathogenicity of identified mutations for phenotypic recovery in a DAG1-knockout...

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Source

Identifiers

PMID: 25503980
DOI: 10.1212/WNL.0000000000001162

Genes

DAG1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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