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Article

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes.

European journal of human genetics : EJHG - 1 Mar 2008

Roth Stephen M, Walsh Sean, Liu Dongmei, Metter E Jeffrey, Ferrucci Luigi, Hurley Ben F

Abstract excerpt

Previous reports have shown a lower proportion of the ACTN3 X/X genotype (R577X nonsense polymorphism) in sprint-related athletes compared to the general population, possibly attributed to impairment of muscle function related to alpha-actinin-3 deficiency. In the present study, we examined the frequency of the X/X genotype in both Black and White elite-level bodybuilders and strength athletes in comparison to...

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Identifiers

PMID: 18043716
DOI: 10.1038/sj.ejhg.5201964
PMCID: PMC2668151

Genes

ACTN3

Variants

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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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