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Article

ACTN3 (R577X) genotype is associated with fiber type distribution.

Physiological genomics - 19 Dec 2007

Vincent Barbara, De Bock Katrien, Ramaekers Monique, Van den Eede Els, Van Leemputte Marc, Hespel Peter, Thomis Martine A

Abstract excerpt

alpha-Actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and alpha-actinin-3 deficiency in XX homozygotes. Associations between the R577X polymorphism and the muscle-power perform...

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Source

Identifiers

PMID: 17848603
DOI: 10.1152/physiolgenomics.00173.2007

Genes

ACTN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17848603-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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