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Article

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.

American journal of medical genetics. Part A - 1 Feb 2022

Gao Shanshan, Mumme-Monheit Abigail, Chen Suet Nee, Spector Elaine B, Slavov Dobromir, Baralle Francisco E, Bristow Michael R, Mestroni Luisa, Taylor Matthew R G

Abstract excerpt

Dilated cardiomyopathy (DCM) is one of the most common cardiac phenotypes caused by mutations of lamin A/C (LMNA) gene in humans. In our study, a cohort of 57 patients who underwent heart transplant for dilated cardiomyopathy was screened for variants in LMNA. We identified a synonymous variant c.936G>A in the last nucleotide of exon 5 of LMNA in a DCM family. Clinically, the LMNA variant carriers presented with...

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Identifiers

PMID: 34652067
DOI: 10.1002/ajmg.a.62530
PMCID: PMC8758524

Provenance

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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