000			nab a22 7a 4500
999			_c17853 _d17853
003			PC17853
005			20240527125429.0
008			240527b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_92786 _aSantalla, Alfredo _eInstituto de Investigación i+12
100			_91007 _aArenas Barbero, Joaquín _eInstituto de Investigación
100			_93056 _aMartín, Miguel Ángel _eInstituto de investigación imas12
100			_92429 _aLucía, Alejandro _eInstituto de Investigación i+12
245	0	0	_aGenes and exercise intolerance: insights from McArdle disease. _h[revisión]
260			_bPhysiological genomics, _c2016
300			_a48(2):93-100.
500			_aFormato Vancouver: Nogales Gadea G, Godfrey R, Santalla A, Coll Cantí J, Pintos Morell G, Pinós T et al. Genes and exercise intolerance: insights from McArdle disease. Physiol Genomics. 2016 Feb;48(2):93-100.
501			_aPMID: 26465709
504			_aContiene 63 referencias
520			_aMcArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exercise (together with pre-exercise carbohydrate ingestion) is the only treatment option that has proven useful for these patients. Furthermore, regular physical activity attenuates the clinical severity of McArdle disease. This is quite remarkable for a monogenic disorder that consistently leads to the same metabolic defect at the muscle tissue level, that is, complete inability to use muscle glycogen stores. Further knowledge of this disorder would help patients and enhance understanding of exercise metabolism as well as exercise genomics. Indeed, McArdle disease is a paradigm of human exercise intolerance and PYGM genotyping should be included in the genetic analyses that might be applied in the coming personalized exercise medicine as well as in future research on genetics and exercise-related phenotypes.
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17853.pdf _ySolicitar documento
942			_2ddc _cREV _n0