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

• Egile Nagusiak: Sami Qadri (Egilea), Olli Anttonen (Egilea), Juho Viikilä (Egilea), Eija H. Seppälä (Egilea), Samuel Myllykangas (Egilea), Tero-Pekka Alastalo (Egilea), Miia Holmström (Egilea), Tiina Heliö (Egilea), Juha W. Koskenvuo (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2017-08-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract 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 geneti...