G.P.13.09 Muscle biopsy mRNA-based analysis of point mutations in DMD gene in Spanish patients

Abstract

Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common X-linked disorders, causing progressive weakness. Both muscular disorders are produced by mutations in the dystrophin gene. The most common mutations are large intragenic deletions and duplications that account for 75% of all cases. In DMD patients the majority of cases the DMD deletions or duplications are frameshift type, and in BMD patients the deletions or duplications are in-frame type. The remaining cases are due to small mutations consisting in nonsense mutations, missense mutations, splicing mutations, frameshift small deletions or insertions and midintronic insertions.