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Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Biomolecules - 28 Jul 2022

Lippi Melania, Chiesa Mattia, Ascione Ciro, Pedrazzini Matteo, Mushtaq Saima, Rovina Davide, Riggio Daniela, Di Blasio Anna Maria, Biondi Maria Luisa, Pompilio Giulio, Colombo Gualtiero I, Casella Michela, Novelli Valeria, Sommariva Elena

Abstract excerpt

Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50-70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on a panel of 174 genes associated with inherited cardiovascular diseases on 82 ACM probands (i) to describe and classify the pathogenicity of rare variants according to the...

Topics

Arrhythmias, Cardiac
Arrhythmogenic Right Ventricular Dysplasia
Genetic Association Studies
Humans
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36008935
DOI: 10.3390/biom12081043
PMCID: PMC9405889

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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