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Article

Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.

Cardiology - 1 Jan 2015

Finsterer Josef, Stöllberger Claudia, Sehnal Ernst, Rehder Helga, Laccone Franco

Abstract excerpt

OBJECTIVE: Cardiac involvement in X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) usually includes arrhythmias but not dilative cardiomyopathy (dCMP). Here, we report an X-EDMD patient with severe dCMP and life-threatening ventricular arrhythmias associated with other phenotypic features unusual for X-EDMD. CASE REPORT: A 46-year-old patient with X-EDMD due to the known splice-site mutation c.449 + 1G>A in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 25502304
DOI: 10.1159/000368222

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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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