The Multiple Faces of Cardiomyopathy Due to Filamin C Gene Variants (FLNC)
Filamin C is an essential protein for the integrity of the sarcomere and cytoskeleton of cardiomyocytes. Pathogenic variants in the FLNC gene are associated with a wide range of cardiomyopathies and may present distinct phenotypes depending on the type of genetic alteration. Truncated variants are frequently associated with dilated and arrhythmogenic cardiomyopathy, while missense variants are more related to hypertrophic and restrictive forms. These phenotypic differences reflect the molecular and structural impact of the FLNC variant on filamin C [...]
Authors
- Frank Nunes (ORCID: https://orcid.org/0009-0009-6561-1818)
- Estêvão Lanna Figueiredo (ORCID: https://orcid.org/0000-0001-5420-2482)
- Evandro Tinoco Mesquita (ORCID: https://orcid.org/0000-0002-7452-3870)
- Diane Xavier de Ávila (ORCID: https://orcid.org/0000-0002-7432-576X)
- Raquel Germer Toja Couto (ORCID: https://orcid.org/0000-0002-4779-9716)
- Ana Flávia Malheiros Torbey (ORCID: https://orcid.org/0000-0001-7935-7966)
- Kárila Scarduelli Luciano (ORCID: https://orcid.org/0000-0002-5210-8414)
Publication Details
- Journal
- ABC Heart Failure & Cardiomyopathy
- Published
- 2025-10-01
- DOI
- https://doi.org/10.36660/abchf.20250008i
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00