Article
A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.
Archives of biochemistry and biophysics - 15 Dec 2006
Du J, Zhang C, Liu J, Sidky C, Huang X P
Abstract excerpt
Cardiac troponin I (cTnI) mutations have been linked to the development of restrictive cardiomyopathy (RCM) in human patients. We modeled one mutation in human cTnI C-terminus, arginine192-->histidine (R192H) by cardiac specific expression of the mutated protein (cTnI(193His) in mouse sequence) in transgenic mice. Heart tissue sections revealed neither significant hypertrophy nor ventricular dilation in...
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