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Myocardial energetics and redox in health and disease
021 Phenotype of the ACTC E99K transgenic mouse reproduces hypertrophic cardiomyopathy in patients
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  1. W Song1
  1. 1Imperial College, London, UK
  2. 2Oxford University, Oxford, UK

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The mutation Gly99lys (E99K) in the cardiac actin (ACTC) gene has been found to cause hypertrophic cardiomyopathy (HCM) in 75 hypertrophic obstructive cardiomyopathy (HOCM) or LVNC patients. Transgenic mice expressing 50% E99K mutant cardiac actin in their hearts were generated and studied. Over 30% male and 70% female E99K mice died …

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