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Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant
medRxiv - Cardiovascular Medicine Pub Date : 2021-10-26 , DOI: 10.1101/2021.10.16.21264154 Edgar T. Hoorntje , Charlotte Burns , Luisa Marsili , Ben Corden , Victoria N. Parikh , Gerard J. te Meerman , Belinda Gray , Ahmet Adiyaman , Richard D. Bagnall , Daniela Q.C.M. Barge-Schaapveld , Maarten P. van den Berg , Marianne Bootsma , Laurens P. Bosman , Gemma Correnti , Johan Duflou , Ruben N. Eppinga , Diane Fatkin , Michael Fietz , Eric Haan , Jan D.H. Jongbloed , Arnaud D. Hauer , Lien Lam , Freyja H.M. van Lint , Amrit Lota , Carlo Marcelis , Hugh J. McCarthy , Anneke M. van Mil , Rogier A. Oldenburg , Nicholas Pachter , R. Nils Planken , Chloe Reuter , Christopher Semsarian , Jasper J. van der Smagt , Tina Thompson , Jitendra Vohra , Paul G.A. Volders , Jaap I. van Waning , Nicola Whiffin , Arthur van den Wijngaard , Ahmad S. Amin , Arthur A.M. Wilde , Gijs van Woerden , Laura Yeates , Dominica Zentner , Euan A. Ashley , Matthew T. Wheeler , James S. Ware , J. Peter van Tintelen , Jodie Ingles
medRxiv - Cardiovascular Medicine Pub Date : 2021-10-26 , DOI: 10.1101/2021.10.16.21264154 Edgar T. Hoorntje , Charlotte Burns , Luisa Marsili , Ben Corden , Victoria N. Parikh , Gerard J. te Meerman , Belinda Gray , Ahmet Adiyaman , Richard D. Bagnall , Daniela Q.C.M. Barge-Schaapveld , Maarten P. van den Berg , Marianne Bootsma , Laurens P. Bosman , Gemma Correnti , Johan Duflou , Ruben N. Eppinga , Diane Fatkin , Michael Fietz , Eric Haan , Jan D.H. Jongbloed , Arnaud D. Hauer , Lien Lam , Freyja H.M. van Lint , Amrit Lota , Carlo Marcelis , Hugh J. McCarthy , Anneke M. van Mil , Rogier A. Oldenburg , Nicholas Pachter , R. Nils Planken , Chloe Reuter , Christopher Semsarian , Jasper J. van der Smagt , Tina Thompson , Jitendra Vohra , Paul G.A. Volders , Jaap I. van Waning , Nicola Whiffin , Arthur van den Wijngaard , Ahmad S. Amin , Arthur A.M. Wilde , Gijs van Woerden , Laura Yeates , Dominica Zentner , Euan A. Ashley , Matthew T. Wheeler , James S. Ware , J. Peter van Tintelen , Jodie Ingles
Background Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy (ACM), however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSPtv cardiomyopathy.
中文翻译：
由于桥粒蛋白 (DSP) 截短变异，变异位置是致心律失常性心肌病患者的新危险因素
背景桥粒蛋白 ( DSP tv) 中的截短变异是导致心律失常性心肌病 (ACM) 的重要原因，但其遗传结构和基因型特异性风险因素尚不完全清楚。我们评估了DSP tv 心肌病的表型、室性心律失常的危险因素和潜在的遗传学。
更新日期：2021-10-28
中文翻译：
由于桥粒蛋白 (DSP) 截短变异，变异位置是致心律失常性心肌病患者的新危险因素
背景桥粒蛋白 ( DSP tv) 中的截短变异是导致心律失常性心肌病 (ACM) 的重要原因，但其遗传结构和基因型特异性风险因素尚不完全清楚。我们评估了DSP tv 心肌病的表型、室性心律失常的危险因素和潜在的遗传学。
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