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dc.contributor.author | Lucía Mulas, Alejandro | |
dc.contributor.author | Gómez Gallego, Félix | |
dc.contributor.author | Santiago Dorrego, Catalina | |
dc.contributor.author | Pérez Ruiz, Margarita | |
dc.contributor.author | Maté-Muñoz, José Luis | |
dc.contributor.author | Chamorro-Viña, Carolina | |
dc.contributor.author | Nogales-Gadea, Gisela | |
dc.contributor.author | Foster, Carl | |
dc.contributor.author | Rubio, Juan Carlos | |
dc.contributor.author | Andreu, Antoni L. | |
dc.contributor.author | Martín, Miguel Ángel | |
dc.contributor.author | Arenas, Joaquín | |
dc.date.accessioned | 2016-07-22T18:16:14Z | |
dc.date.available | 2016-07-22T18:16:14Z | |
dc.date.issued | 2007 | |
dc.identifier.citation | Lucía, 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. | spa |
dc.identifier.issn | 09608966 | |
dc.identifier.uri | http://hdl.handle.net/11268/5456 | |
dc.description.abstract | 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. | spa |
dc.description.sponsorship | Sin financiación | spa |
dc.language.iso | eng | spa |
dc.title | The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease | spa |
dc.type | article | spa |
dc.description.impact | 2.667 JCR (2007) Q2, 44/146 Clinical neurology, 90/212 Neurosciences | spa |
dc.identifier.doi | 10.1016/j.nmd.2007.04.006 | |
dc.rights.accessRights | closedAccess | spa |
dc.subject.uem | Enfermedades-McArdle | spa |
dc.subject.uem | Condición física-Ejercicios | spa |
dc.subject.unesco | Metabolismo | spa |
dc.description.filiation | UEM | spa |
dc.peerreviewed | Si | spa |
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