Article
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice.
The Journal of clinical investigation - 1 Nov 1999
McConnell B K, Jones K A, Fatkin D, Arroyo L H, Lee R T, Aristizabal O, Turnbull D H, Georgakopoulos D, Kass D, Bond M, Niimura H, Schoen F J, Conner D, Fischman D A, Seidman C E, Seidman J G, Fischman D H
Abstract excerpt
To elucidate the role of cardiac myosin-binding protein-C (MyBP-C) in myocardial structure and function, we have produced mice expressing altered forms of this sarcomere protein. The engineered mutations encode truncated forms of MyBP-C in which the cardiac myosin heavy chain-binding and titin-binding domain has been replaced with novel amino acid residues. Analogous heterozygous defects in humans cause...
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