Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ∼18% of the global population. There is no associated disease phenotype, but α-actinin-3 deficiency is detrimental to sprint and power performance in both elite athletes and the general population. However, despite consider...

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Udgivet i:Hum Mol Genet
Main Authors: Hogarth, Marshall W., Garton, Fleur C., Houweling, Peter J., Tukiainen, Taru, Lek, Monkol, Macarthur, Daniel G., Seto, Jane T., Quinlan, Kate G.R., Yang, Nan, Head, Stewart I., North, Kathryn N.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2016
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4754040/
https://ncbi.nlm.nih.gov/pubmed/26681802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv613
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