Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

Zampatti S, Mela J, Peconi C, et al. Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis. Prenatal diagnosis 2018;38:1096-1102   Abstract OBJECTIVE: The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for […]