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Anat Rec (Hoboken). 2014 Sep;297(9):1670-80. doi: 10.1002/ar.22973.

Structural implications of β-cardiac myosin heavy chain mutations in human disease.

Author information

1
Faculty 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.

KEYWORDS:

cardiac disease; point mutation; skeletal muscle disease; β-cardiac myosin

PMID:
25125180
DOI:
10.1002/ar.22973
[Indexed for MEDLINE]
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