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

• Hoofdauteurs: Krista Heliö (Auteur), Tiia Kangas-Kontio (Auteur), Sini Weckström (Auteur), Sari U. M. Vanninen (Auteur), Katriina Aalto-Setälä (Auteur), Tero-Pekka Alastalo (Auteur), Samuel Myllykangas (Auteur), Tiina M. Heliö (Auteur), Juha W. Koskenvuo (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2020-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...