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Article

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Human mutation - 1 Mar 2016

Brodehl Andreas, Ferrier Raechel A, Hamilton Sara J, Greenway Steven C, Brundler Marie-Anne, Yu Weiming, Gibson William T, McKinnon Margaret L, McGillivray Barbara, Alvarez Nanette, Giuffre Michael, Schwartzentruber Jeremy, Gerull Brenda

Abstract excerpt

Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early heart transplantation. Familial forms are mainly caused by mutations in sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26666891
DOI: 10.1002/humu.22942

Genes

FLNC

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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