In Vivo Analysis of an Essential Myosin Light Chain Mutation Linked to Familial Hypertrophic Cardiomyopathy

Mutations in cardiac motor protein genes are associated with familial hypertrophic cardiomyopathy. Mutations in both the regulatory (Glu22Lys) and essential light chains (Met149Val) result in an unusual pattern of hypertrophy, leading to obstruction of the midventricular cavity. When a human genomic...

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Bibliographic Details
Published in:	Circulation research Vol. 87; no. 4; pp. 296 - 302
Main Authors:	Sanbe, Atsushi, Nelson, David, Gulick, James, Setser, Elizabeth, Osinska, Hanna, Wang, Xuejun, Hewett, Timothy E, Klevitsky, Raisa, Hayes, Eric, Warshaw, David M, Robbins, Jeffrey
Format:	Journal Article
Language:	English
Published:	Hagerstown, MD American Heart Association, Inc 18-08-2000 Lippincott Lippincott Williams & Wilkins Ovid Technologies
Subjects:	Animals Biological and medical sciences Cardiology. Vascular system Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology Cardiomyopathy, Hypertrophic - physiopathology Female Fibrosis Gene Expression - physiology Heart Humans Male Medical sciences Mice Mice, Transgenic Microscopy, Electron Molecular Sequence Data Muscle Fibers, Skeletal - pathology Muscle Fibers, Skeletal - ultrastructure Muscle Proteins - analysis Mutagenesis - physiology Myocardial Contraction - genetics Myocarditis. Cardiomyopathies Myocardium - chemistry Myocardium - pathology Myosin Light Chains - genetics Organ Size Point Mutation Sequence Homology, Amino Acid Heart Myofibril Rodentia Transgenic animal Cardiovascular disease Light peptide chain Myocardial disease Genetic disease Vertebrata Mammalia Mouse Heart disease Myosin Hypertrophic cardiomyopathy Circulatory system Mutation Sarcomere
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