Key result
Over 500 disease-causing point mutations in the human β-cardiac myosin heavy chain cluster at critical sequence points, revealing information about the function of this protein.
Population
Over 500 disease-causing point mutations in the human β-cardiac myosin heavy chain
Design
Review
Authors
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May guide variant interpretation in cardiomyopathy; extends myosin function insights but leaves open therapeutic translation.
This review highlights that disease-causing mutations in the human β-cardiac myosin heavy chain cluster at critical sequence points, providing insights into the protein's function.
Colegrave et al. (2014) studied this question. Over 500 disease-causing point mutations in the human β-cardiac myosin heavy chain cluster at critical sequence points, revealing information about the function of this protein.
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