Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

@article{Seto2011DeficiencyO,
  title={Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.},
  author={Jane T C Seto and Monkol Lek and Kate G. R. Quinlan and Peter J Houweling and Xi Fiona Zheng and Fleur C Garton and Daniel G. MacArthur and Joanna M. Raftery and Sean M Garvey and Michael A. Hauser and Nan Yang and Stewart I Head and Kathryn N North},
  journal={Human molecular genetics},
  year={2011},
  volume={20 15},
  pages={2914-27}
}
Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3 in ∼20% of the general population. α-Actinin-3 deficiency is associated with decreased force generation and is detrimental to sprint and power performance in elite athletes… CONTINUE READING