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Article

The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.

PloS one - 1 Jan 2015

Deschamps Chelsea L, Connors Kimberly E, Klein Matthias S, Johnsen Virginia L, Shearer Jane, Vogel Hans J, Devaney Joseph M, Gordish-Dressman Heather, Many Gina M, Barfield Whitney, Hoffman Eric P, Kraus William E, Hittel Dustin S

Abstract excerpt

Homozygosity for a premature stop codon (X) in the ACTN3 "sprinter" gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = 98 males, n = 102 females; 23 ± 4.2...

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Source

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Identifiers

PMID: 26107372
DOI: 10.1371/journal.pone.0130644
PMCID: PMC4480966

Genes

ACTN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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