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Article

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Nature communications - 29 Oct 2014

Valdés-Mas Rafael, Gutiérrez-Fernández Ana, Gómez Juan, Coto Eliecer, Astudillo Aurora, Puente Diana A, Reguero Julián R, Álvarez Victoria, Morís César, León Diego, Martín María, Puente Xose S, López-Otín Carlos

Abstract excerpt

Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the gene encoding the sarcomeric protein filamin C (p.A1539T) that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25351925
DOI: 10.1038/ncomms6326

Genes

FLNC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.PMID 25351925Read ↗

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The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".Semantic proximity Read ↗

Filamin C in cardiomyopathy: from physiological roles to DNA variants.Semantic proximity Read ↗

FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.Semantic proximity Read ↗

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.Semantic proximity Read ↗

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.Semantic proximity Read ↗

FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathySemantic proximity Read ↗

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.Semantic proximity Read ↗

Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.Semantic proximity Read ↗

A mutation update for the FLNC gene in myopathies and cardiomyopathies.Semantic proximity Read ↗

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.Semantic proximity Read ↗

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