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α-Myosin Heavy Chain
Author(s) -
Elisa Carniel,
Matthew R.G. Taylor,
Gianfranco Sinagra,
Andrea Di Lenarda,
Lisa Ku,
Pamela R. Fain,
Mark M. Boucek,
Jean Cavanaugh,
Snježana Miočiċ,
Dobromir Slavov,
Sharon Graw,
Jennie Feiger,
Xiao Zhu,
Dmi Dao,
Debra A. Ferguson,
Michael R. Bristow,
Luisa Mestroni
Publication year - 2005
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.104.507699
Subject(s) - myh6 , medicine , missense mutation , hypertrophic cardiomyopathy , myh7 , proband , mutation , genetics , phenotype , cardiology , gene , biology , gene isoform
Mutations in the beta-myosin heavy-chain (betaMyHC) gene cause hypertrophic (HCM) and dilated (DCM) forms of cardiomyopathy. In failing human hearts, downregulation of alphaMyHC mRNA or protein has been correlated with systolic dysfunction. We hypothesized that mutations in alphaMyHC could also lead to pleiotropic cardiac phenotypes, including HCM and DCM.

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