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Article

First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.

Gene - 15 Nov 2018

Janin Alexandre, Bessière Francis, Chauveau Samuel, Chevalier Philippe, Millat Gilles

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease with an estimated prevalence of 1/500. More than 40 genes have been reported to cause HCM. Among them, CSRP3 is usually included on HCM gene panels used for molecular diagnosis by next-generation sequencing (NGS). To provide new insights into the pathophysiology of hypertrophic cardiomyopathy, a NGS workflow based on a panel of...

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Source

Identifiers

PMID: 30012424
DOI: 10.1016/j.gene.2018.07.036

Genes

CSRP3
MYBPC3
MYH7
TNNI3
TNNT2

Variants

Provenance

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First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.PMID 30012424Read ↗

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