TY  - JOUR 
AU  - García, Susana
AU  - Haro Muñoz, Tomás de
AU  - Zafra-Ceres, Mercedes
AU  - Poyatos, Antonio
AU  - Gómez Capilla, José Antonio
PY  - 2014
SN  - 1449-1907
UR  - http://hdl.handle.net/10481/35280
AB  - 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...
AB  - 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.
AB  - 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.
AB  - 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.
LA  - eng
PB  - Ivysprin International Publisher
KW  - Duchénnè/Becker
KW  - Multiplex Ligation-dependent Probe Amplification (MLPA)
KW  - De novo mutations
TI  - Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain
DO  - 10.7150/ijms.8391
ER  -