Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy
Makaleler > Tam Makale · 2014
Yazarlar: Sevcan ATAY, Aslı TETİK VARDARLI, Vildan BOZOK, Selcen Yakar TULUCE, Kamil TULUCE, Latife Meral KAYIKÇIOĞLU, Fatma Zuhal EROĞLU
ANATOLIAN JOURNAL OF CARDIOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2014, cilt 14, ss 244-250
Özet
Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with an autosomal-dominant pattern of inheritance mainly caused by single heterozygous mutations in sarcomere genes. In this study we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM.