A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.
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ABSTRACT:
SUBMITTER: Yang Q
PROVIDER: S-EPMC508976 | biostudies-other | 1998 Oct
REPOSITORIES: biostudies-other
Publications
A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.
Yang Q Q Sanbe A A Osinska H H Hewett T E TE Klevitsky R R Robbins J J
The Journal of clinical investigation 19981001 7
Familial hypertrophic cardiomyopathy can be caused by mutations in genes encoding sarcomeric proteins, including the cardiac isoform of myosin binding protein C (MyBP-C), and multiple mutations which cause truncated forms of the protein to be made are linked to the disease. We have created transgenic mice in which varying amounts of a mutated MyBP-C, lacking the myosin and titin binding domains, are expressed in the heart. The transgenically encoded, truncated protein is stable but is not incorp ...[more]
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