Article
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Journal of human genetics - 1 Jun 2018
Traverso Monica, Assereto Stefania, Baratto Serena, Iacomino Michele, Pedemonte Marina, Diana Maria Cristina, Ferretti Marta, Broda Paolo, Minetti Carlo, Gazzerro Elisabetta, Madia Francesca, Bruno Claudio, Zara Federico, Fiorillo Chiara
Abstract excerpt
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead...
Topics
- Adolescent
- Biopsy
- Codon, Terminator
- Creatine Kinase
- DNA, Complementary
- Dystrophin
- Exons
- Gene Deletion
- Humans
- Male
- Muscle, Skeletal
- Muscular Dystrophy, Duchenne
- Myalgia