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A highly penetrant <i>LMNA</i> R541C variant associated with dilated cardiomyopathy leads to dysregulation in metabolism and proliferation pathways in stem cell-derived cardiomyocytes

2026-07-23

Abstract excerpt

<h4>Background</h4> LMNA codes a widely expressed nuclear cytoskeletal protein (lamin A/C) with multiple important functions. Pathogenic LMNA genetic variation may lead to autosomal dominant cardiomyopathy, though the severity and rate of progression can vary with the specific nucleotide change and location. Prior studies showed that induced pluripotent stem cells (iPSC)-derived cardiomyocytes (iCMs) with LMNA...

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Literature Corpus work
a13234a7-affb-5289-be1f-67cd8eabe34f
DOI
10.64898/2026.07.20.739542
Open publication

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