Article
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.
The Journal of clinical investigation - 1 Jun 1993
Cuda G, Fananapazir L, Zhu W S, Sellers J R, Epstein N D
Abstract excerpt
Hypertrophic cardiomyopathy is an important inherited disease. The phenotype has been linked, in some kindreds, to the beta-myosin heavy chain (beta-MHC) gene. Missense and silent mutations in the beta-MHC gene were used as markers to demonstrate the expression of mutant and normal cardiac beta-MHC gene message in skeletal muscle of hypertrophic cardiomyopathy patients. Mutant beta-myosin, also shown to be...
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