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familial hypertrophic cardiomyopathy
Diagnosis and Management of Hypertrophic Cardiomyopathy Google Books.
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Principles of Molecular Cardiology Google Books.
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Human Disease Model Report: cardiomyopathy, familial hypertrophic 18.
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Familial Hypertrophic Cardiomyopathy Mutations in the Regulatory Light Chains of Myosin Affect Their Structure, Ca2Binding, and Phosphorylation.
From the Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, Florida 33136 and the Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas 75390. The effect of the familial hypertrophic cardiomyopathy mutations, A13T, F18L, E22K, R58Q, and P95A, found in the regulatory light chains of human cardiac myosin has been investigated.
Familial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I Summit.
Log in non-SFU users. Familial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I. Biomedical Physiology and Kinesiology, Department of. Molecular Biology and Biochemistry, Department of. Li, Alison Y. Stevens, Charles M.
Familial Hypertrophic Cardiomyopathy Circulation Research.
The results of molecular genetics studies have shown that familial hypertrophic cardiomyopathy is a disease of the sarcomere involving mutations in 7 different genes encoding proteins of the myofibrillar apparatus: myosin heavy chain, ventricular myosin essential light chain, ventricular myosin regulatory light chain, cardiac troponin T, cardiac troponin I, tropomyosin, and cardiac myosin binding protein C.
Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. Heart.
BACKGROUND-Familial hypertrophic cardiomyopathy is the most common inherited cardiac disorder, with sudden cardiac death at a young age the most frequent cause of death in affected individuals. Some cases of familial hypertrophic cardiomyopathy are caused by missense mutations of the beta myosin heavy chain beta MHC gene on chromosome 14 and at least 17 such mutations have been described.
Long-Range Effects of Familial Hypertrophic Cardiomyopathy Mutations E180G and D175N on the Properties of Tropomyosin Biochemistry.
Peptides and proteins., Cardiac tropomyosin Tm single-site mutations D175N and E180G cause familial hypertrophic cardiomyopathy FHC. Previous studies have shown that these mutations increase both Ca 2 sensitivity and residual contractile activity at low Ca 2 concentrations, which causes incomplete relaxation during diastole resulting in hypertrophy and sarcomeric disarray.
Familial hypertrophic cardiomyopathy Genetic and Rare Diseases Information Center GARD an NCATS Program.
The American Heart Association is the nations oldest and largest voluntary organization dedicated to fighting heart disease and stroke. The Mayo Clinic Web site provides further information on Familial hypertrophic cardiomyopathy. Genetics Home Reference GHR contains information on Familial hypertrophic cardiomyopathy.

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