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Effective PGT-M Strategies for DMD/BMD by Fika Pujiani is a document available to read on EtoBox.
This study evaluates five preimplantation genetic testing for monogenic disorders (PGT-M) strategies for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) over a decade, analyzing 158 cycles. Strategy 5, which combines mutation testing with SNP-based linkage analysis, achieved the highest diagnostic rate of 99.56% and effectively reduced misdiagnosis from embryonic recombination. The findings highlight the importance of monitoring intragenic recombination in DMD/BMD, demonstrating the efficacy
- Author
- Fika Pujiani
- Language
- EN