Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

doi:10.1172/JCI117795

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Article

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

The Journal of clinical investigation - 1 Mar 1995

Lankford E B, Epstein N D, Fananapazir L, Sweeney H L

Abstract excerpt

Missense mutations in the beta-myosin heavy chain (beta-MHC) gene cause hypertrophic cardiomyopathy (HCM). As normal and mutant beta-MHCs are expressed in slow-twitch skeletal muscle of HCM patients, we compared the contractile properties of single slow-twitch muscle fibers from patients with thr...

Topics

Biopsy
Cardiomyopathy, Hypertrophic
Contractile Proteins
Humans
Isometric Contraction
Muscle Fibers, Slow-Twitch
Muscle, Skeletal
Mutation
Myosins

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