Homologous mutations in [Formula: see text] , embryonic, and perinatal muscle myosins have divergent effects on molecular power generation

Mutations at a highly conserved homologous residue in three closely related muscle myosins cause three distinct diseases involving muscle defects: R671C in [Formula: see text]-cardiac myosin causes hypertrophic cardiomyopathy, R672C and R672H in embryonic skeletal myosin cause Freeman Sheldon syndro...

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Detalles Bibliográficos
Autores principales: Liu, Chao, Karabina, Anastasia, Meller, Artur, Bhattacharjee, Ayan, Agostino, Colby J, Bowman, Greg R, Ruppel, Kathleen M, Spudich, James A, Leinwand, Leslie A
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/PMC10327197/
https://www.ncbi.nlm.nih.gov/pubmed/37425764
http://dx.doi.org/10.1101/2023.07.02.547385

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10327197/
https://www.ncbi.nlm.nih.gov/pubmed/37425764
http://dx.doi.org/10.1101/2023.07.02.547385

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