Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy

Articles > Article · 2014

Authors: Sevcan ATAY, Aslı TETİK VARDARLI, Vildan BOZOK, Selcen Yakar TULUCE, Kamil TULUCE, Latife Meral KAYIKÇIOĞLU, Fatma Zuhal EROĞLU

ANATOLIAN JOURNAL OF CARDIOLOGY, Journal Indexed in SCI Expanded, International, 2014, vol 14, pp 244-250

DOI: 10.5152/akd.2014.4730

Summary

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.

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