DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

Abstract Background Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (LMNA) genes are the two most signifi...

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Bibliographic Details
Main Authors: Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genetics
Subjects:
Cardiomyopathies
Dilated cardiomyopathy
Arrhythmogenic cardiomyopathy
desmoplakin
DSP
Mutation
Online Access:https://doi.org/10.1186/s12881-020-0955-z

Internet

https://doi.org/10.1186/s12881-020-0955-z

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