title: ACTN3: A genetic influence on muscle function and athletic performance.
abstract: 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.
authors.affiliation: Institute for Neuromuscular Research, Children's Hospital at Westmead, Westmead NSW, Australia.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D000185:Actinin / Q000235:genetics*; D006801:Humans; D009142:Musculoskeletal Physiological Phenomena; D010641:Phenotype; D010807:Physical Endurance / Q000235:genetics; D010809:Physical Fitness / Q000502:physiology*; D013177:Sports
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin