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

• Главные авторы: Sami Qadri (Автор), Olli Anttonen (Автор), Juho Viikilä (Автор), Eija H. Seppälä (Автор), Samuel Myllykangas (Автор), Tero-Pekka Alastalo (Автор), Miia Holmström (Автор), Tiina Heliö (Автор), Juha W. Koskenvuo (Автор)
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• Опубликовано: BMC, 2017-08-01T00:00:00Z.
• Предметы: article
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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...