Article
An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance
4 Jan 2008
Abstract excerpt
A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast skeletal muscle fiber protein alpha-actinin-3 in an estimated one billion humans worldwide. The XX null genotype is under-represented in elite sprint athletes, associated with reduced muscle strength and sprint performance in non-athletes, and is over-represented in endurance athletes, suggesting that...
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