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

• Main Authors: Krista Heliö (Author), Tiia Kangas-Kontio (Author), Sini Weckström (Author), Sari U. M. Vanninen (Author), Katriina Aalto-Setälä (Author), Tero-Pekka Alastalo (Author), Samuel Myllykangas (Author), Tiina M. Heliö (Author), Juha W. Koskenvuo (Author)
• Formato: Livro
• Publicado em: BMC, 2020-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...