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Article

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance.

Medicine and science in sports and exercise - 1 Mar 2016

Garton Fleur C, North Kathryn N

Abstract excerpt

UNLABELLED: α-Actinin-3 is primarily expressed in fast (Type II) fibers in the human skeletal muscle. Over 70% of the global population has at least one copy of a loss of function allele because of a premature stop codon in the ACTN3 gene (R577X). Homozygosity for this variant (577XX) occurs in approximately 16% of humans worldwide and results in complete α-actinin-3 deficiency, which is detrimental to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26429734
DOI: 10.1249/MSS.0000000000000784

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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