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Article

Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes.

Journal of molecular and cellular cardiology - 1 May 2018

Spitalieri Paola, Talarico Rosa V, Caioli Silvia, Murdocca Michela, Serafino Annalucia, Girasole Marco, Dinarelli Simone, Longo Giovanni, Pucci Sabina, Botta Annalisa, Novelli Giuseppe, Zona Cristina, Mango Ruggiero, Sangiuolo Federica

Abstract excerpt

Myotonic Dystrophy type 1 (DM1) is a multisystemic disease, autosomal dominant, caused by a CTG repeat expansion in DMPK gene. We assessed the appropriateness of patient-specific induced pluripotent stem cell-derived cardiomyocytes (CMs) as a model to recapitulate some aspects of the pathogenetic mechanism involving cardiac manifestations in DM1 patients. Once obtained in vitro, CMs have been characterized for...

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Source

Identifiers

PMID: 29551391
DOI: 10.1016/j.yjmcc.2018.03.012

Genes

DMPK
SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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