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Published on May 1, 2019in Pflügers Archiv: European Journal of Physiology 3.38
Amelia A. Glazier2
Estimated H-index: 2
(UM: University of Michigan),
Andrea D. Thompson12
Estimated H-index: 12
(UM: University of Michigan),
Sharlene M. Day24
Estimated H-index: 24
(UM: University of Michigan)
Mutations in cardiac myosin binding protein C (MYBPC3) represent the most frequent cause of familial hypertrophic cardiomyopathy (HCM), making up approximately 50% of identified HCM mutations. MYBPC3 is distinct among other sarcomere genes associated with HCM in that truncating mutations make up the vast majority, whereas nontruncating mutations predominant in other sarcomere genes. Several studies using myocardial tissue from HCM patients have found reduced abundance of wild-type MYBPC3 compare...