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Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain
dc.contributor.author | García, Susana | |
dc.contributor.author | Haro Muñoz, Tomás de | |
dc.contributor.author | Zafra-Ceres, Mercedes | |
dc.contributor.author | Poyatos, Antonio | |
dc.contributor.author | Gómez Capilla, José Antonio | |
dc.date.accessioned | 2015-03-16T13:49:32Z | |
dc.date.available | 2015-03-16T13:49:32Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | García, S.; et al. Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain. International Journal of Medical Sciences, 11(10): 988-933 (2014). [http://hdl.handle.net/10481/35280] | es_ES |
dc.identifier.issn | 1449-1907 | |
dc.identifier.uri | http://hdl.handle.net/10481/35280 | |
dc.description.abstract | Background: Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible. | es_ES |
dc.description.abstract | Methods: Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives. | es_ES |
dc.description.abstract | Results: Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied. | es_ES |
dc.description.abstract | Conclusions: MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling. | es_ES |
dc.description.sponsorship | CGLL has a postdoctoral fellowship from the Plan Propio of the University of Granada. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Ivysprin International Publisher | es_ES |
dc.rights | Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/ | es_ES |
dc.subject | Duchénnè/Becker | es_ES |
dc.subject | Multiplex Ligation-dependent Probe Amplification (MLPA) | es_ES |
dc.subject | De novo mutations | es_ES |
dc.title | Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain | es_ES |
dc.type | journal article | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.publisherversion | http://www.medsci.org/v11p0988.htm | es_ES |
dc.identifier.doi | 10.7150/ijms.8391 |