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Article

Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres.

Acta physiologica (Oxford, England) - 1 Apr 2012

Vincent B, Windelinckx A, Van Proeyen K, Masschelein E, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, Thomis M

Abstract excerpt

AIM: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3(-/-) knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR...

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Source

Identifiers

PMID: 21933355
DOI: 10.1111/j.1748-1716.2011.02366.x

Genes

ACTN3

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