Article
α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.
Human molecular genetics - 1 Apr 2014
Garton F C, Seto J T, Quinlan K G R, Yang N, Houweling P J, North K N
Abstract excerpt
Homozygosity for a common null polymorphism (R577X) in the ACTN3 gene results in the absence of the fast fibre-specific protein, α-actinin-3 in ∼16% of humans worldwide. α-Actinin-3 deficiency is detrimental to optimal sprint performance and benefits endurance performance in elite athletes. In the general population, α-actinin-3 deficiency is associated with reduced muscle mass, strength and fast muscle fibre...
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