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pubmed-article:17560787pubmed:abstractTextWe assessed the possible association existing between alpha-actinin-3 (ACTN3) R577X genotypes and the capacity for performing aerobic exercise in McArdle's patients. Forty adult McArdle's disease patients and forty healthy, age and gender-matched sedentary controls (21 men, 19 women in both groups) performed a graded test until exhaustion and a constant-load test on a cycle-ergometer to determine clinically relevant indices of exercise capacity as peak oxygen uptake (VO(2peak)) and the ventilatory threshold (VT). In the group of diseased women, carriers of the X allele had a higher (P<0.01) VO(2peak) (15.0+/-1.2 ml/kg/min) and a higher (P<0.05) oxygen uptake (VO(2)) at the VT (11.2+/-1 ml/kg/min) than R/R homozygotes (VO(2peak): 9.6+/-0.5 ml/kg/min; VO(2) at the VT: 8.2+/-0.7 ml/kg/min). No differences were found in male patients. In women with McArdle's disease, ACTN3 genotypes might partly explain the large individual variability that exists in the phenotypic manifestation of this disorder.lld:pubmed
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pubmed-article:17560787pubmed:articleTitleThe 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease.lld:pubmed
pubmed-article:17560787pubmed:affiliationUniversidad Europea de Madrid, Madrid, Spain. alejandro.lucia@uem.eslld:pubmed
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