Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain García, Susana Haro Muñoz, Tomás de Zafra-Ceres, Mercedes Poyatos, Antonio Gómez Capilla, José Antonio Duchénnè/Becker Multiplex Ligation-dependent Probe Amplification (MLPA) De novo mutations 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. 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. 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. 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. 2015-03-16T13:49:32Z 2015-03-16T13:49:32Z 2014 info:eu-repo/semantics/article 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] 1449-1907 http://hdl.handle.net/10481/35280 10.7150/ijms.8391 eng http://www.medsci.org/v11p0988.htm http://creativecommons.org/licenses/by-nc-nd/3.0/ info:eu-repo/semantics/openAccess Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License Ivysprin International Publisher