Article
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.
The Journal of clinical investigation - 1 Aug 1999
Tardiff J C, Hewett T E, Palmer B M, Olsson C, Factor S M, Moore R L, Robbins J, Leinwand L A
Abstract excerpt
Multiple mutations in cardiac troponin T (cTnT) can cause familial hypertrophic cardiomyopathy (FHC). Patients with cTnT mutations generally exhibit mild or no ventricular hypertrophy, yet demonstrate a high frequency of early sudden death. To understand the functional basis of these phenotypes, we created transgenic mouse lines expressing 30%, 67%, and 92% of their total cTnT as a missense (R92Q) allele...
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