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Article

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.

Heart rhythm - 1 Aug 2014

Pambrun Thomas, Mercier Aurélie, Chatelier Aurélien, Patri Sylvie, Schott Jean-Jacques, Le Scouarnec Solena, Chahine Mohamed, Degand Bruno, Bois Patrick

Abstract excerpt

BACKGROUND: Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion in the DMPK gene, can cause cardiac conduction disorders and sudden death. These cardiac manifestations are similar to those observed in loss-of-function SCN5A mutations, which are also responsible for Brugada syndrome (BrS). OBJECTIVE: The purpose of this study was to investigate DM1 effects on clinical expression of a...

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Identifiers

PMID: 24768612
DOI: 10.1016/j.hrthm.2014.04.026

Genes

DMPK

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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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