Article
In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.
International journal of molecular sciences - 23 May 2023
Egorova Tatiana V, Galkin Ivan I, Velyaev Oleg A, Vassilieva Svetlana G, Savchenko Irina M, Loginov Vyacheslav A, Dzhenkova Marina A, Korshunova Diana S, Kozlova Olga S, Ivankov Dmitry N, Polikarpova Anna V
Abstract excerpt
Mutations that prevent the production of proteins in the DMD gene cause Duchenne muscular dystrophy. Most frequently, these are deletions leading to reading-frame shift. The "reading-frame rule" states that deletions that preserve ORF result in a milder Becker muscular dystrophy. By removing several exons, new genome editing tools enable reading-frame restoration in DMD with the production of BMD-like...
Topics
- Mice
- Animals
- Dystrophin
- Mice, Inbred CBA
- Muscular Dystrophy, Duchenne
- Phenotype
- Exons
- Gene Deletion