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Cardiac Troponin Mutations and Restrictive Cardiomyopathy
Joint Authors
Dweck, David
Potter, James D.
Pinto, Jose Renato
Parvatiyar, Michelle S.
Source
Issue
Vol. 2010, Issue 2010 (31 Dec. 2009), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-03-15
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Mutations in sarcomeric proteins have recently been established as heritable causes of Restrictive Cardiomyopathy (RCM).
RCM is clinically characterized as a defect in cardiac diastolic function, such as, impaired ventricular relaxation, reduced diastolic volume and increased end-diastolic pressure.
To date, mutations have been identified in the cardiac genes for desmin, α-actin, troponin I and troponin T.
Functional studies in skinned muscle fibers reconstituted with troponin mutants have established phenotypes consistent with the clinical findings which include an increase in myofilament Ca2+ sensitivity and basal force.
Moreover, when RCM mutants are incorporated into reconstituted myofilaments, the ability to inhibit the ATPase activity is reduced.
A majority of the mutations cluster in specific regions of cardiac troponin and appear to be mutational “hot spots.” This paper highlights the functional and clinical characteristics of RCM linked mutations within the troponin complex.
American Psychological Association (APA)
Parvatiyar, Michelle S.& Pinto, Jose Renato& Dweck, David& Potter, James D.. 2010. Cardiac Troponin Mutations and Restrictive Cardiomyopathy. BioMed Research International،Vol. 2010, no. 2010, pp.1-9.
https://search.emarefa.net/detail/BIM-988869
Modern Language Association (MLA)
Parvatiyar, Michelle S.…[et al.]. Cardiac Troponin Mutations and Restrictive Cardiomyopathy. BioMed Research International No. 2010 (Dec. 2010), pp.1-9.
https://search.emarefa.net/detail/BIM-988869
American Medical Association (AMA)
Parvatiyar, Michelle S.& Pinto, Jose Renato& Dweck, David& Potter, James D.. Cardiac Troponin Mutations and Restrictive Cardiomyopathy. BioMed Research International. 2010. Vol. 2010, no. 2010, pp.1-9.
https://search.emarefa.net/detail/BIM-988869
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-988869