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The Novel Variant NP_00454563.2 ( p.Glu259Glyfs77 ) in Gene PKP2 Associated with Arrhythmogenic Card...

The Novel Variant NP_00454563.2 ( p.Glu259Glyfs77 ) in Gene PKP2 Associated with Arrhythmogenic Card...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10379208

The Novel Variant NP_00454563.2 ( p.Glu259Glyfs77 ) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain

About this item

Full title

The Novel Variant NP_00454563.2 ( p.Glu259Glyfs77 ) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2023-07, Vol.14 (7), p.1468

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death, or even give rise to heart failure (HF). Sudden death is frequently the first manifestation of the disease, particularly among yo...

Alternative Titles

Full title

The Novel Variant NP_00454563.2 ( p.Glu259Glyfs77 ) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10379208

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10379208

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes14071468

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