TY - JOUR 
A1 - Lucía Mulas, Alejandro
AU - Gómez Gallego, Félix
AU - Santiago Dorrego, Catalina
AU - Pérez Ruiz, Margarita
AU - Maté-Muñoz, José Luis
AU - Chamorro-Viña, Carolina
AU - Nogales-Gadea, Gisela
AU - Foster, Carl
AU - Rubio, Juan Carlos
AU - Andreu, Antoni L.
AU - Martín, Miguel Ángel
AU - Arenas, Joaquín
T1 - The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease
Y1 - 2007
SN - 09608966
UR - http://hdl.handle.net/11268/5456
AB - We 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.
KW - Enfermedades-McArdle
KW - Condición física-Ejercicios
KW - Metabolismo
LA - eng
ER -