MacArthur Daniel G, North Kathryn N
Institute for Neuromuscular Research, Children's Hospital at Westmead, Westmead NSW, Australia.
Exerc Sport Sci Rev. 2007 Jan;35(1):30-4. doi: 10.1097/JES.0b013e31802d8874.
A common variant of the ACTN3 gene, R577X, results in complete deficiency of the alpha-actinin-3 protein in the fast skeletal muscle fibers of more than a billion humans worldwide. We review the evidence that this genetic variant is strongly associated with elite athlete status and with normal variation in human muscle strength and sprinting speed.
ACTN3基因的一种常见变体R577X,导致全球超过10亿人的快速骨骼肌纤维中α-辅肌动蛋白-3蛋白完全缺失。我们综述了该基因变体与精英运动员身份以及人类肌肉力量和短跑速度正常变异密切相关的证据。