Article
Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.
The Journal of biological chemistry - 10 Jun 2011
Pinto Jose Renato, Yang Shi Wei, Hitz Marc-Phillip, Parvatiyar Michelle S, Jones Michelle A, Liang Jingsheng, Kokta Victor, Talajic Mario, Tremblay Nicolas, Jaeggi Michelle, Andelfinger Gregor, Potter James D
Abstract excerpt
A novel double deletion in cardiac troponin T (cTnT) of two highly conserved amino acids (Asn-100 and Glu-101) was found in a restrictive cardiomyopathic (RCM) pediatric patient. Clinical evaluation revealed the presence of left atrial enlargement and marked left ventricle diastolic dysfunction. The explanted heart examined by electron microscopy revealed myofibrillar disarray and mild fibrosis. Pedigree analysis...
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