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Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K...

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1ca17080b113486bb046af485f7a3abe

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs8, in a family with sudden cardiac death

About this item

Full title

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs8, in a family with sudden cardiac death

Publisher

London: BioMed Central Ltd

Journal title

BMC medical genomics, 2023-10, Vol.16 (1), p.1-10, Article 266

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

We conducted an investigation into the clinical and molecular characteristics of Arrhythmogenic left ventricular cardiomyopathy (ALVC) caused by a novel likely pathogenic mutation in an Iranian pedigree with sudden cardiac death (SCD). ALVC is a genetically inherited myocardial disease characterized by the substitution of fibro-fatty tissue in the...

Alternative Titles

Full title

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs8, in a family with sudden cardiac death

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_1ca17080b113486bb046af485f7a3abe

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1ca17080b113486bb046af485f7a3abe

Other Identifiers

ISSN

1755-8794

E-ISSN

1755-8794

DOI

10.1186/s12920-023-01701-w

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