Article
No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons.
Annals of human genetics - 1 Nov 2007
Saunders C J, September A V, Xenophontos S L, Cariolou M A, Anastassiades L C, Noakes T D, Collins M
Abstract excerpt
Alpha-actinins are major structural components of the Z-discs in skeletal muscle. Alpha-actinin 3 is encoded by the ACTN3 gene and is expressed only in type II muscle fibres. Homozygosity for the nonsense mutation, 577X, within ACTN3 results in deficiency of alpha-actinin-3 but does not result in...
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