Article
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
The Journal of clinical investigation - 1 Oct 2013
Seto Jane T, Quinlan Kate G R, Lek Monkol, Zheng Xi Fiona, Garton Fleur, MacArthur Daniel G, Hogarth Marshall W, Houweling Peter J, Gregorevic Paul, Turner Nigel, Cooney Gregory J, Yang Nan, North Kathryn N
Abstract excerpt
α-Actinin-3 deficiency occurs in approximately 16% of the global population due to homozygosity for a common nonsense polymorphism in the ACTN3 gene. Loss of α-actinin-3 is associated with reduced power and enhanced endurance capacity in elite athletes and nonathletes due to "slowing" of the metabolic and physiological properties of fast fibers. Here, we have shown that α-actinin-3 deficiency results in increased...
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