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Article

Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel TTN Frameshift Mutation.

International journal of molecular sciences - 12 Jan 2021

Micaglio Emanuele, Monasky Michelle M, Bernardini Andrea, Mecarocci Valerio, Borrelli Valeria, Ciconte Giuseppe, Locati Emanuela T, Piccoli Marco, Ghiroldi Andrea, Anastasia Luigi, Pappone Carlo

Abstract excerpt

Dilated cardiomyopathy (DCM) is the leading indication for heart transplantation. TTN gene truncating mutations account for about 25% of familial DCM cases and for 18% of sporadic DCM cases. The clinical relevance of specific variants in TTN has been difficult to determine because of the sheer size of the protein for which TTN encodes, as well as existing extensive genetic variation. Clinicians should communicate...

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Identifiers

PMID: 33445410
DOI: 10.3390/ijms22020670
PMCID: PMC7826882

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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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