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Article

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

American journal of human genetics - 11 Mar 2011

Norton Nadine, Li Duanxiang, Rieder Mark J, Siegfried Jill D, Rampersaud Evadnie, Züchner Stephan, Mangos Steve, Gonzalez-Quintana Jorge, Wang Libin, McGee Sean, Reiser Jochen, Martin Eden, Nickerson Deborah A, Hershberger Ray E

Abstract excerpt

Dilated cardiomyopathy commonly causes heart failure and is the most frequent precipitating cause of heart transplantation. Familial dilated cardiomyopathy has been shown to be caused by rare variant mutations in more than 30 genes but only ~35% of its genetic cause has been identified, principally by using linkage-based or candidate gene discovery approaches. In a multigenerational family with autosomal dominant...

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Identifiers

PMID: 21353195
DOI: 10.1016/j.ajhg.2011.01.016
PMCID: PMC3059419

Genes

BAG3
BCL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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