Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

@article{Rayment1995StructuralIO,
  title={Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.},
  author={Ivan Rayment and Hazel M Holden and James R Sellers and Lameh Fananapazir and Neal D. Epstein},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1995},
  volume={92 9},
  pages={3864-8}
}
In 10-30% of hypertrophic cardiomyopathy kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene. The amino acid sequence similarity between chicken skeletal muscle and human beta-cardiac myosin and the three-dimensional structure of the chicken skeletal muscle myosin head have provided the opportunity to examine the structural consequences of these naturally occurring mutations in human beta-cardiac myosin. This study demonstrates that the… CONTINUE READING

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Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

Proceedings of the National Academy of Sciences of the United States of America • 2016
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References

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Protein Structure: NewApproachesforDisease and Therapy (Freeman, New York)

M. F. Perutz
1992

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