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Article

The CnB1 p.D102A variant is linked to dilated cardiomyopathy via impaired Calcineurin activity.

Journal of molecular and cellular cardiology - 1 Nov 2020

Jinqiang Zhuang M D, Ruijun Yuan M D, Yizeng M D, Congliang Miao M D, Dandan Zhou M D, Anli Na M D, Xinying Yang M D, Hui Xu M D, Hong Jiang

Abstract excerpt

BACKGROUND: The role of calcineurin (protein phosphatase 2B (PP2B)) in the pathogenesis of human dilated cardiomyopathy (DCM) has not been fully elucidated. We determined the potential involvement of calcineurin in the pathogenesis of DCM caused by mutations in CnB1, a subunit of calcineurin. METHODS: By whole-exome sequencing, we identified a new CnB1 variant in a Han Chinese proband with cardiomyopathy from a...

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PMID: 32882262
DOI: 10.1016/j.yjmcc.2020.08.012

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