Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels

In 1990, the Seidmans showed that a single point mutation, R403Q, in the human β-myosin heavy chain (MHC) of heart muscle caused a particularly malignant form of familial hypertrophic cardiomyopathy (HCM) [Geisterfer-Lowrance AA, et al. (1990) Cell 62:999–1006.]. Since then, more than 300 mutations...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Lowey, Susan, Bretton, Vera, Joel, Peteranne B., Trybus, Kathleen M., Gulick, James, Robbins, Jeffrey, Kalganov, Albert, Cornachione, Anabelle S., Rassier, Dilson E.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2018
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6217429/
https://ncbi.nlm.nih.gov/pubmed/30322937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1802967115
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