Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy

Circ Genom Precis Med. 2023 Dec;16(6):e004282. doi: 10.1161/CIRCGEN.123.004282. Epub 2023 Oct 24.

Authors

Affiliations

¹ Department of Cardiovascular Medicine, Graduate School of Medicine (S.I., T.K., S.N., T.Y., B.Z., Z.D., T.J., M.K., J.I., E.A., M.H., N.T., H.M.).
² Department of Cardiovascular Surgery, Graduate School of Medicine, The University of Tokyo, Japan (M.O.).
³ International University of Health and Welfare, Tokyo, Japan (I.K.).
⁴ Department of Frontier Cardiovascular Science, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan (I.K.).

PMID: 37873655
DOI: 10.1161/CIRCGEN.123.004282

No abstract available

Keywords: cardiomyopathy; genetics; heart failure; heat shock protein.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics
Cardiomyopathy, Dilated* / diagnosis
Cardiomyopathy, Dilated* / genetics
Connectin / genetics
Humans
Mutation

Substances

Adaptor Proteins, Signal Transducing
BAG5 protein, human
Connectin