Article
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.
International journal of cardiology - 1 Aug 2025
van Drie E, Jongbloed J D H, Hoorntje E, van der Zwaag P A, Cox M G P J, Deprez R H Lekanne, Houweling A C, Proost V P, Wilde A A M, Dooijes D, Baas A F, Te Riele A S J M, van Spaendonck-Zwarts K Y, Lodder E M, van Tintelen J P
Abstract excerpt
AIMS: To evaluate the prevalence and clinical consequences of additional rare genetic variants in cardiomyopathy- and/or channelopathy-related genes in PLN p.(Arg14del) patients. METHODS: In PLN p.(Arg14del) index patients (n = 160), additional rare genetic variants in cardiomyopathy- or channelopathy-related genes were collected. These variants were (re)classified as either variants of uncertain significance...
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