Divergent Molecular Phenotypes in Point Mutations at the Same Residue in Beta-Myosin Heavy Chain Lead to Distinct Cardiomyopathies

In genetic cardiomyopathies, a frequently described phenomenon is how similar mutations in one protein can lead to discrete clinical phenotypes. One example is illustrated by two mutations in beta myosin heavy chain (β-MHC) that are linked to hypertrophic cardiomyopathy (HCM) (Ile467Val, I467V) and...

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Detalles Bibliográficos
Autores principales: Lehman, Sarah J., Meller, Artur, Solieva, Shahlo O., Lotthammer, Jeffrey M., Greenberg, Lina, Langer, Stephen J., Greenberg, Michael J., Tardiff, Jil C., Bowman, Gregory R., Leinwand, Leslie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349964/
https://www.ncbi.nlm.nih.gov/pubmed/37461648
http://dx.doi.org/10.1101/2023.07.03.547580

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