The effect of α-actinin-3 deficiency on muscle aging

JT Seto, S Chan, N Turner, DG MacArthur… - Experimental …, 2011 - Elsevier
Deficiency of the fast-twitch muscle protein α-actinin-3 due to homozygosity for a nonsense
polymorphism (R577X) in the ACTN3 gene is common in humans. α-Actinin-3 deficiency
(XX) is associated with reduced muscle strength/power and enhanced endurance
performance in elite athletes and in the general population. The association between R577X
and loss in muscle mass and function (sarcopenia) has previously been investigated in a
number of studies in elderly humans. The majority of studies report loss of ACTN3 genotype …