DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

BackgroundPathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, curly or wavy hair, and palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated with DSP cardiomyopathy m...

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Bibliographic Details
Main Authors: Krista Heliö, Eveliina Brandt, Satu Vaara, Sini Weckström, Liisa Harjama, Riina Kandolin, Johanna Järviö, Katariina Hannula-Jouppi, Tiina Heliö, Miia Holmström, Juha W. Koskenvuo
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
DSP
cardiomyopathy
arrhythmogenic cardiomyopathy
palmoplantar keratoderma
myocarditis
CMR
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1130903/full

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