Article
Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?
Expert opinion on biological therapy - 1 Sept 2012
Yokota Toshifumi, Duddy William, Echigoya Yusuke, Kolski Hanna
Abstract excerpt
INTRODUCTION: Duchenne muscular dystrophy (DMD), one of the most common and lethal genetic disorders, is caused by mutations of the dystrophin gene. Removal of an exon or of multiple exons using antisense molecules has been demonstrated to allow synthesis of truncated 'Becker muscular dystrophy-like' dystrophin. AREAS COVERED: Approximately 15% of DMD cases are caused by a nonsense mutation. Although patient...
Topics
- Animals
- Codon, Nonsense
- Dystrophin
- Exons
- Genetic Predisposition to Disease
- Genetic Therapy
- Humans
- Muscular Dystrophy, Duchenne
- Oligoribonucleotides, Antisense
- Phenotype
- Precision Medicine