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Article

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.

Scientific reports - 1 Nov 2017

Vikhorev Petr G, Smoktunowicz Natalia, Munster Alex B, Copeland O'Neal, Kostin Sawa, Montgiraud Cecile, Messer Andrew E, Toliat Mohammad R, Li Amy, Dos Remedios Cristobal G, Lal Sean, Blair Cheavar A, Campbell Kenneth S, Guglin Maya, Richter Manfred, Knöll Ralph, Marston Steven B

Abstract excerpt

Dilated cardiomyopathy (DCM) is an important cause of heart failure. Single gene mutations in at least 50 genes have been proposed to account for 25-50% of DCM cases and up to 25% of inherited DCM has been attributed to truncating mutations in the sarcomeric structural protein titin (TTNtv). Whilst the primary molecular mechanism of some DCM-associated mutations in the contractile apparatus has been studied in...

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Source

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Identifiers

PMID: 29093449
DOI: 10.1038/s41598-017-13675-8
PMCID: PMC5665940

Genes

MYH7
TNNC1
TNNI3
TTN

Variants

Provenance

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

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