Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiolo...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: Qadri, Sami, Anttonen, Olli, Viikilä, Juho, Seppälä, Eija H., Myllykangas, Samuel, Alastalo, Tero-Pekka, Holmström, Miia, Heliö, Tiina, Koskenvuo, Juha W.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5561604/
https://ncbi.nlm.nih.gov/pubmed/28818065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0442-3
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