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Article

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

European journal of human genetics : EJHG - 1 Mar 2013

Meyer Thomas, Ruppert Volker, Ackermann Sarah, Richter Anette, Perrot Andreas, Sperling Silke R, Posch Maximilian G, Maisch Bernhard, Pankuweit Sabine

Abstract excerpt

Recently, missense mutations in titin-associated proteins have been linked to the pathogenesis of dilated cardiomyopathy (DCM). The objective of this study was to search for novel disease-associated mutations in the two human titin-binding proteins myopalladin and its amino-terminal-interacting partner cardiac ankyrin-repeat protein (CARP). In a cohort of 255 cases with familial and sporadic DCM, we analyzed the...

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Share to Cardiomyopathy, Dilated
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 22892539
DOI: 10.1038/ejhg.2012.173
PMCID: PMC3573205

Genes

MYPN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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