Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

doi:10.1016/j.jacep.2017.12.003

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Article

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

JACC. Clinical electrophysiology - 1 Apr 2018

Begay Rene L, Graw Sharon L, Sinagra Gianfranco, Asimaki Angeliki, Rowland Teisha J, Slavov Dobromir B, Gowan Katherine, Jones Kenneth L, Brun Francesca, Merlo Marco, Miani Daniela, Sweet Mary, Devaraj Kalpana, Wartchow Eric P, Gigli Marta, Puggia Ilaria, Salcedo Ernesto E, Garrity Deborah M, Ambardekar Amrut V, Buttrick Peter, Reece T Brett, Bristow Michael R, Saffitz Jeffrey E, Mestroni Luisa, Taylor Matthew R G

Abstract excerpt

OBJECTIVES: The purpose of this study was to assess the phenotype of Filamin C (FLNC) truncating variants in dilated cardiomyopathy (DCM) and understand the mechanism leading to an arrhythmogenic phenotype. BACKGROUND: Mutations in FLNC are known to lead to skeletal myopathies, which may have an associated cardiac component. Recently, the clinical spectrum of FLNC mutations has been recognized to include a...

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Identifiers

PMID: 30067491
DOI: 10.1016/j.jacep.2017.12.003
PMCID: PMC6074050

Genes

FLNC

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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