Article
Myotonic Dystrophy and Developmental Regulation of RNA Processing.
Comprehensive Physiology - 25 Mar 2018
Thomas James D, Oliveira Ruan, Sznajder Łukasz J, Swanson Maurice S
Abstract excerpt
Myotonic dystrophy (DM) is a multisystemic disorder caused by microsatellite expansion mutations in two unrelated genes leading to similar, yet distinct, diseases. DM disease presentation is highly variable and distinguished by differences in age-of-onset and symptom severity. In the most severe form, DM presents with congenital onset and profound developmental defects. At the molecular level, DM pathogenesis is...
Topics
- Animals
- Gene Expression Regulation, Developmental
- Humans
- Muscle Development
- Muscle, Skeletal
- Mutation
- Myotonic Dystrophy
- Pedigree
- RNA-Binding Proteins