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Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics

BACKGROUND: A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle fibres in ~ 16% of the world’s population. This single gene polymorphism has been subject to strong positive selection pressure during recent human ev...

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Detalles Bibliográficos
Autores principales: Haug, Michael, Reischl, Barbara, Nübler, Stefanie, Kiriaev, Leonit, Mázala, Davi A. G., Houweling, Peter J., North, Kathryn N., Friedrich, Oliver, Head, Stewart I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9219180/
https://www.ncbi.nlm.nih.gov/pubmed/35733150
http://dx.doi.org/10.1186/s13395-022-00295-8

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