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Article

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".

Journal of muscle research and cell motility - 1 Jun 2021

Schänzer Anne, Schumann Elisabeth, Zengeler Diana, Gulatz Lisann, Maroli Giovanni, Ahting Uwe, Sprengel Anke, Gräf Sabine, Hahn Andreas, Jux Christian, Acker Till, Fürst Dieter O, Rupp Stefan, Schuld Julia, van der Ven Peter F M

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the FLNC gene (c.7289C > T; p.Ala2430Val) that was previously shown to cause aggregation of the mutant...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic

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Share to Myocytes, Cardiac

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Source

Identifiers

PMID: 33710525
DOI: 10.1007/s10974-021-09601-1

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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