More results for familial hypertrophic cardiomyopathy

familial hypertrophic cardiomyopathy
Principles of Molecular Cardiology Google Books.
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PayPerView: Phenotypic Variation of Familial Hypertrophic Cardiomyopathy Caused by the Phe 110 Ile Mutation in Cardiac Troponin T Karger Publishers.
Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg H-P, Fiszman M, Komajda M, Schwartz K: Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
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.
List of variants in gene TTN studied for Familial hypertrophic cardiomyopathy 9 ClinVar Miner.
List of variants in gene TTN studied for Familial hypertrophic cardiomyopathy 9. Minimum submission review status.: reviewed by expert panel. Minimum conflict level.: multiple submissions, potential for conflict. synonymous conflict e.g. benign vs non-pathogenic. confidence conflict e.g. benign vs likely benign.
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.
Familial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I.
Familial hypertrophic cardiomyopathy FHC is the most commonly inherited cardiovascular disease with a prevalence of 1500 individuals 4 and is the most common cause of sudden cardiac death in young athletes 5. FHC has been associated with 1000 mutations in 20 different sarcomeric and related genes with 60 mutations occurring within the cTn complex 3, 6.
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.
Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing: Expert Review of Molecular Diagnostics: Vol 4, No 1.
Volume 4, Issue 1. Familial hypertrophic cardiomyopathy: cl. Search in: This Journal. Expert Review of Molecular Diagnostics Volume 4, 2004 Issue 1. Submit an article Journal homepage. CrossRef citations to date. Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing.
Genetics of Hypertrophic Cardiomyopathy After 20 Years: Clinical Perspectives ScienceDirect. ScienceDirect.
Under an Elsevier user license. Hypertrophic cardiomyopathy HCM is the most common familial heart disease with vast genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere 1400, variants are responsible for or associated with HCM.

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