Parker, F and Peckham, M orcid.org/0000-0002-3754-2028 (2020) Disease mutations in striated muscle myosins. Biophysical Reviews, 12 (4). pp. 887-894. ISSN 1867-2450
Abstract
Over 1000 disease-causing missense mutations have been found in human β-cardiac, α-cardiac, embryonic and adult fast myosin 2a myosin heavy chains. Most of these are found in human β-cardiac myosin heavy chain. Mutations in β-cardiac myosin cause hypertrophic cardiomyopathy predominantly, whereas those in α-cardiac are associated with many types of heart disease, of which the most common is dilated cardiomyopathy. Mutations in embryonic and fast myosin 2a affect skeletal muscle function. This review provides a short overview of the mutations in the different myosin isoforms and their disease-causing effects.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © The Author(s) 2020. This is an open access article under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) (https://creativecommons.org/licenses/by/4.0/) |
Keywords: | β-Cardiac myosin; α-Cardiac myosin; Embryonic myosin; Cardiac disease; Skeletal muscle disease; Missense mutation |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Biological Sciences (Leeds) > School of Molecular and Cellular Biology (Leeds) > Cell Biology (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 13 Aug 2020 14:41 |
Last Modified: | 25 Jun 2023 22:23 |
Status: | Published |
Publisher: | Springer |
Identification Number: | 10.1007/s12551-020-00721-5 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:164328 |
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