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

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 significant con...

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Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Heliö, Krista, Kangas-Kontio, Tiia, Weckström, Sini, Vanninen, Sari U. M., Aalto-Setälä, Katriina, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M., Koskenvuo, Juha W.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6995042/
https://ncbi.nlm.nih.gov/pubmed/32005173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0955-z
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