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Article

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy.

BMC cardiovascular disorders - 6 Aug 2022

Kalayinia Samira, Mahdavi Mohammad, Houshmand Golnaz, Hesami Mahshid, Pourirahim Maryam, Maleki Majid

Abstract excerpt

BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiac disease with two main features: electric instability and myocardial fibro-fatty replacement. There is no defined treatment except for preventing arrhythmias and sudden death. Detecting causative mutations helps identify the disease pathogenesis and family members at risk. We used whole-exome sequencing to determine a genetic explanation for an...

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Share to Arrhythmogenic Right Ventricular Dysplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35933355
DOI: 10.1186/s12872-022-02802-7
PMCID: PMC9356459

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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