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Article

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.

Journal of the American Heart Association - 21 May 2024

Ohiri Joyce C, Dellefave-Castillo Lisa, Tomar Garima, Wilsbacher Lisa, Choudhury Lubna, Barefield David Y, Fullenkamp Dominic, Gacita Anthony M, Monroe Tanner O, Pesce Lorenzo, Blancard Malorie, Vaught Lauren, George Alfred L, Demonbreun Alexis R, Puckelwartz Megan J, McNally Elizabeth M

Abstract excerpt

BACKGROUND: Many cardiomyopathy-associated FLNC pathogenic variants are heterozygous truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia triggers in filaminopathy are incompletely understood. METHODS AND RESULTS: We describe an individual with biallelic FLNC pathogenic variants, p.Arg650X and c.970-4A>G, with peripartum cardiomyopathy and ventricular arrhythmias. We also describe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38761081
DOI: 10.1161/JAHA.123.030467
PMCID: PMC11179814

Genes

FLNC
BAG3
HSPB8

Variants

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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