Article
Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.
International journal of medical sciences - 1 Jan 2014
Garcia Susana, de Haro Tomás, Zafra-Ceres Mercedes, Poyatos Antonio, Gomez-Capilla Jose A, Gomez-Llorente Carolina
Abstract excerpt
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)...
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