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Article

Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.

BMC medical genomics - 21 Dec 2023

Ghasemi Serwa, Mahdavi Mohammad, Maleki Majid, Salahshourifar Iman, Kalayinia Samira

Abstract excerpt

BACKGROUND: Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. Whole-exome sequencing (WES) is a powerful tool to identify variants underlying genetic cardiomyopathies. Via WES, we sought to identify DCM causes in a family with 2 affected patients. METHODS:...

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Identifiers

PMID: 38129817
DOI: 10.1186/s12920-023-01780-9
PMCID: PMC10734089

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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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