@misc{10481/35280,
year = {2014},
url = {http://hdl.handle.net/10481/35280},
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.},
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.},
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.},
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.},
organization = {CGLL has a postdoctoral fellowship from the Plan Propio of the University of Granada.},
publisher = {Ivysprin International Publisher},
keywords = {Duchénnè/Becker},
keywords = {Multiplex Ligation-dependent Probe Amplification (MLPA)},
keywords = {De novo mutations},
title = {Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain},
doi = {10.7150/ijms.8391},
author = {García, Susana and Haro Muñoz, Tomás de and Zafra-Ceres, Mercedes and Poyatos, Antonio and Gómez Capilla, José Antonio},
}