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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha: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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