The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes-Reference-Cited by-同舟云学术

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The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes

Published:2007-11-28 Issue:3 Volume:16 Page:391-394
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Roth Stephen M,Walsh Sean,Liu Dongmei,Metter E Jeffrey,Ferrucci Luigi,Hurley Ben F

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201964.pdf

Reference22 articles.

1. Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM : Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem 1992; 267: 9281–9288.

2. Blanchard A, Ohanian V, Critchley D : The structure and function of alpha-actinin. J Muscle Res Cell Motil 1989; 10: 280–289.

3. North KN, Yang N, Wattanasirishaigoon D, Mills MA, Easteal S, Beggs AH : A common nonsense mutation results in α-actinin-3 deficiency in the general population. Nat Genet 1999; 21: 353–354.

4. MacArthur DG, North KN : ACTN3: a genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev 2007; 35: 30–34.

5. North KN, Beggs AH : Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 1996; 6: 229–235.

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