Lucía Mulas, AlejandroGómez Gallego, FélixSantiago Dorrego, CatalinaPérez Ruiz, MargaritaMaté-Muñoz, José LuisChamorro-Viña, CarolinaNogales-Gadea, GiselaFoster, CarlRubio, Juan CarlosAndreu, Antoni L.Martín, Miguel ÁngelArenas, Joaquín2016-07-222016-07-222007Lucía, A., Gómez-Gallego, F., Santiago, C., Pérez, M., Maté-Muñoz, J. L., Chamorro-Viña, C., ... & Arenas, J. (2007). The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease. Neuromuscular Disorders, 17(8), 603-610.09608966http://hdl.handle.net/11268/5456We assessed the possible association existing between α-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.engjournal article10.1016/j.nmd.2007.04.006restricted accessEnfermedades-McArdleCondición física-EjerciciosMetabolismo