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

Abstract 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...

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Bibliographic Details
Main Authors: Michael Haug, Barbara Reischl, Stefanie Nübler, Leonit Kiriaev, Davi A. G. Mázala, Peter J. Houweling, Kathryn N. North, Oliver Friedrich, Stewart I. Head
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Skeletal Muscle
Subjects:
Online Access:https://doi.org/10.1186/s13395-022-00295-8

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