mirage

The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease

ABACUS/Manakin Repository

Show simple item record

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 openAccess 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


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record