Article
Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.
The American journal of cardiology - 15 Sept 2013
Abraham M Roselle, Bottomley Paul A, Dimaano Veronica Lea, Pinheiro Aurelio, Steinberg Angela, Traill Thomas A, Abraham Theodore P, Weiss Robert G
Abstract excerpt
A lethal and extensively characterized familial form of hypertrophic cardiomyopathy (HC) is due to a point mutation (Arg403Gln) in the cardiac β-myosin heavy chain gene. Although this is associated with abnormal energy metabolism and progression to heart failure in an animal model, in vivo cardiac energetics have not been characterized in patients with this mutation. Noninvasive phosphorus saturation transfer...
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