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

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

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Acknowledgements

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.

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Correspondence to Kathryn N. North.

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