Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

A common nonsense mutation results in α-actinin-3 deficiency in the general population

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Figure 1: Molecular analysis of α-actinin-3 genes and proteins.


  1. Blanchard, A., Ohanian, V. & Critchley D. J. Muscle Res. Cell Motil. 10, 280–289 (1989).

    Article  CAS  PubMed  Google Scholar 

  2. Beggs, A.H. et al. J. Biol. Chem. 267, 9281–9288 (1992).

    CAS  PubMed  Google Scholar 

  3. North, K.N. & Beggs, A.H. Neuromuscul. Disord. 6, 229–235 (1996).

    Article  CAS  PubMed  Google Scholar 

  4. Vainzof, M. et al. Neuropediatrics 28, 223–228 (1997).

    Article  CAS  PubMed  Google Scholar 

  5. Minetti, C., Ricci, E. & Bonilla, E. Neurology 41, 1977–1981 (1991).

    Article  CAS  PubMed  Google Scholar 

  6. Slatkin, M. & Excoffier, L. Heredity 76, 377–383 (1996).

    Article  PubMed  Google Scholar 

  7. Cooke, J. et al. Trends Genet. 13, 360–364 (1997).

    Article  CAS  Google Scholar 

  8. Chan, Y.-m. et al. Biochem. Biophys. Res. Comm. 248, 134–139 (1998).

    Article  CAS  PubMed  Google Scholar 

  9. Simoneau, J.-A. & Bouchard, C. in Paediatric Anaerobic Performance (ed. Van Praagh, E.) 5–21 (Human Kinetics Publishers, Champaign, Illinois, 1998).

    Google Scholar 

  10. Flood, G., Rowe, A.J., Critchley, D.R. & Gratzer, W.B. Eur. Biophys. J. 25, 431–435 (1997).

    Article  CAS  PubMed  Google Scholar 

  11. Li, W.-H. J. Mol. Evol. 36, 96–99 (1993).

    Article  CAS  PubMed  Google Scholar 

  12. Kimura, M. J. Mol. Evol. 16, 111–120 (1980).

    Article  CAS  PubMed  Google Scholar 

Download references


We thank S. Kim and H.-Q. Tong for technical assistance, M. Ettore for help with ACTN3 genotyping and P. Gunning, L. Kunkel and J. Scharf for their suggestions and critical reading of the manuscript. The authors acknowledge a gift of anonymous DNA samples from D. Bing and R. Houranieh at the Boston Center for Blood Research. This work was supported by an RACP Glaxo Wellcome Australia Fellowship to K.N.N. and by grants from the Muscular Dystrophy Association and the National Institutes of Health (NIAMS R01 AR44345 and K02 AR02026) to A.H.B.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Kathryn N. North.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

North, K., Yang, N., Wattanasirichaigoon, D. et al. A common nonsense mutation results in α-actinin-3 deficiency in the general population. Nat Genet 21, 353–354 (1999).

Download citation

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing