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Article

Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.

Cytoskeleton (Hoboken, N.J.) - 1 Mar 2025

Klimenko E S, Zaytseva A K, Sorokina M Yu, Perepelina K I, Rodina N L, Nikitina E G, Sukhareva K S, Khudiakov A A, Vershinina T L, Muravyev A S, Mikhaylov E N, Pervunina T M, Vasichkina E S, Kostareva A A

Abstract excerpt

Filamin С is a key an actin-binding protein of muscle cells playing a critical role in maintaining structural integrity and sarcomere organization. FLNC mutations contribute to various types of cardiomyopathies and myopathies through potentially different molecular mechanisms. Here, we described the impact of two clinically distinct FLNC variants (R1267Q associated with arrhythmogenic cardiomyopathy and V2264M...

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Identifiers

PMID: 39315490
DOI: 10.1002/cm.21922
PMCID: PMC11904857

Genes

FLNC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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