Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
MacArthur, Daniel; Seto, Jane T; Raftery, Joanna M; Quinlan, Kate G; Huttley, Gavin Austin; Hook, Jeff W; Lemckert, Frances A; Kee, Anthony J; Edwards, Michael R; Berman, Yemima; Hardeman, Edna C; Gunning, Peter W; Easteal, Simon; Yang, Nan; North, Kathryn
More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein α-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associa
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