Article
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
Nature genetics - 1 Feb 2009
Dhandapany Perundurai S, Sadayappan Sakthivel, Xue Yali, Powell Gareth T, Rani Deepa Selvi, Nallari Prathiba, Rai Taranjit Singh, Khullar Madhu, Soares Pedro, Bahl Ajay, Tharkan Jagan Mohan, Vaideeswar Pradeep, Rathinavel Andiappan, Narasimhan Calambur, Ayapati Dharma Rakshak, Ayub Qasim, Mehdi S Qasim, Oppenheimer Stephen, Richards Martin B, Price Alkes L, Patterson Nick, Reich David, Singh Lalji, Tyler-Smith Chris, Thangaraj Kumarasamy
Abstract excerpt
Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown. Cardiomyopathies due to sarcomeric mutations are a major monogenic cause for heart failure (MIM600958). Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in...
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