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3. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Lucia A, Gómez-Gallego F, Santiago C, Pérez M, Maté-Muñoz JL, Chamorro-Viña C, Nogales-Gadea G, Foster C, Rubio JC, Andreu AL, Martín MA, Arenas J. Neuromuscul Disord; 2007 Aug; 17(8):603-10. PubMed ID: 17560787 [Abstract] [Full Text] [Related]
9. Genotype modulators of clinical severity in McArdle disease. Rubio JC, Gómez-Gallego F, Santiago C, García-Consuegra I, Pérez M, Barriopedro MI, Andreu AL, Martín MA, Arenas J, Lucia A. Neurosci Lett; 2007 Jul 18; 422(3):217-22. PubMed ID: 17630210 [Abstract] [Full Text] [Related]
10. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. Vissing J, Duno M, Schwartz M, Haller RG. Brain; 2009 Jun 18; 132(Pt 6):1545-52. PubMed ID: 19433441 [Abstract] [Full Text] [Related]
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