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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair.

It has long been noted that while patients with familial hypertrophic cardiomyopathy due to cardiac troponin T (cTnT) mutations often suffer sudden cardiac death, they do not develop significant ventricular hypertrophy, suggesting that a distinct cellular mechanism apart from alterations in myocardial contractility is responsible. A new study has revealed that a single missense mutation in cTnT causes a striking disruption to energy metabolism, leading to cardiomyopathy.[1]

References

  1. Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair. Schwartz, K., Mercadier, J.J. J. Clin. Invest. (2003) [Pubmed]
 
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