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dc.contributor.author | Rubio, Juan Carlos | |
dc.contributor.author | Lucía Mulas, Alejandro | |
dc.contributor.author | Fernández-Cadenas, Israel | |
dc.contributor.author | Cabello Sánchez, Ana Belén | |
dc.contributor.author | Blázquez Encinar, Alberto | |
dc.contributor.author | Gámez, Josep | |
dc.contributor.author | Andreu, Antoni L. | |
dc.contributor.author | Martín, Miguel Ángel | |
dc.contributor.author | Arenas, Joaquín | |
dc.date.accessioned | 2016-07-28T15:12:09Z | |
dc.date.available | 2016-07-28T15:12:09Z | |
dc.date.issued | 2006 | |
dc.identifier.citation | Rubio, J. C., Lucía, A., Fernández-Cadenas, I., Cabello, A., Blázquez, A., Gámez, J., ... & Arenas, J. (2006). Novel mutation in the PYGM gene resulting in McArdle disease. Archives of neurology, 63(12), 1782-1784. | spa |
dc.identifier.issn | 21686149 | |
dc.identifier.issn | 21686157 | |
dc.identifier.uri | http://hdl.handle.net/11268/5512 | |
dc.description.abstract | McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during exertion, myalgia, and cramps. Despite the wide knowledge of the molecular basis of McArdle disease, few studies have used a physiological approach or explored the possibility of improving the exercise capacity of these patients. Our purposes were to describe 3 unrelated patients with McArdle disease with a novel mutation in the PYGMgene and to assess the physical capacity in 1 of them.Using molecular genetic approaches, we identified the underlying molecular defect in 3 patients with McArdle disease. Physical performance was evaluated in 1 patient by means of an exercise tolerance test on a bicycle ergometer.The 3 patients showed common features of McArdle disease. They were definitively diagnosed by histochemistry, biochemistry, or molecular genetic analysis. All of the 3 patients were genetic compounds for the common Arg50Stop mutation and a novel c.13_14delCT mutation in the PYGM gene. The peak oxygen uptake (VO↓2peak) of the patient who performed the exercise test was only 20.2 mL · kg↑−1 · min↑−1. In conclusion, together with the novel mutation, there is a markedly decreased exercise capacity in a patient with McArdle disease, which could account for the profound alteration in the capacity for performing normal activities of daily living in this subpopulation. | spa |
dc.description.sponsorship | Sin financiación | spa |
dc.language.iso | spa | spa |
dc.title | Novel mutation in the PYGM gene resulting in McArdle disease | spa |
dc.type | article | spa |
dc.description.impact | 2.533 SJR (2006) Q1, 5/270 Neurology (clinical), 15/356 Arts and humanities (miscellaneous) | spa |
dc.identifier.doi | 10.1001/archneur.63.12.1782 | |
dc.rights.accessRights | openAccess | spa |
dc.subject.uem | Enfermedades-McArdle | spa |
dc.subject.uem | Genética humana | spa |
dc.subject.unesco | Metabolismo | spa |
dc.subject.unesco | Genética humana | spa |
dc.description.filiation | UEM | spa |
dc.peerreviewed | Si | spa |
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