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Article

Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews.

International journal of cardiology - 15 Oct 2020

Oz Shimrit, Yonath Hagith, Visochyk Leonid, Ofek Efrat, Landa Natalie, Reznik-Wolf Haike, Ortiz-Genga Martin, Monserrat Lorenzo, Ben-Gal Tuvia, Goitein Orly, Beinart Roy, Glikson Michael, Freimark Dov, Pras Elon, Arad Michael, Nof Eyal

Abstract excerpt

BACKGROUND: Filamin C is a cytoskeletal protein expressed in cardiac cells. Nonsense variations in the filamin C gene (FLNC) were associated with dilated and arrhythmogenic cardiomyopathies. METHODS AND RESULTS: We identified an intronic variation in FLNC gene (c.3791-1G > C) in three unrelated Ashkenazi Jewish families with variable expression of arrhythmia and cardiomyopathy. cDNA was prepared from a mutation...

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Identifiers

PMID: 32532510
DOI: 10.1016/j.ijcard.2020.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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