• Susana Garcia, Tomás de Haro, Mercedes Zafra-Ceres, Antonio Poyatos, Jose A Gomez-Capilla, and Carolina Gomez-Llorente.
• 1. UGC Laboratorios Clínicos. Hospital Universitario San Cecilio. Avd/Doctor Olóriz s/n 18012 Granada, Spain.
• Int J Med Sci. 2014 Jan 1; 11 (10): 988993988-93.

BackgroundDuchénnè/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.MethodsMultiplex 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.ResultsDystrophin 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.ConclusionsMLPA 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.

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