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Updated: Apr 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Structural implications of β-cardiac myosin heavy chain mutations in human disease
Melanie Colegrave1, Michelle Peckham
1Faculty of Biological Sciences, School of Molecular and Cellular Biology, University of Leeds, Leeds LS2 9JT, United Kingdom.
Abstract:
Over 500 disease-causing point mutations have been found in the human β-cardiac myosin heavy chain, many quite recently with modern sequencing techniques. This review shows that clusters of these mutations occur at critical points in the sequence and investigates whether the many studies on these mutants reveal information about the function of this protein.
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