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[Cardiomyopathy due to a mutation in the phospholamban gene: a high-impact genetic abnormality].

Nederlands tijdschrift voor geneeskunde - 19 Apr 2023

van der Meer Peter, van Rooij Eva, Doevendans Pieter A

Abstract excerpt

A mutation in the Phospholamban gene where the Arginine at position 14 (PLN-R14Del) is missing is causing a severe cardiomyopathy often leading to cardiac transplantation in the Netherlands. We estimated that approximately 25% of all transplanted patients carry this mutation. The origin is dated somewhere around the year 1300 in the north of country. Currently we have identified 1600 carriers with the identical...

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PMID: 37078560

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