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Article

Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.

Revista portuguesa de cardiologia - 1 Jun 2020

Toste Alexandra, Perrot Andreas, Özcelik Cemil, Cardim Nuno

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is a genetically and phenotypically heterogeneous disease; there is still a large proportion of patients with no identified disease-causing mutation. Although the majority of mutations are found in the MYH7 and MYBPC3 genes, mutations in Z-disk-associated proteins have also been linked to HCM. METHODS: We assessed a small family with HCM based on...

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PMID: 32565061
DOI: 10.1016/j.repc.2019.12.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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