Article
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
Human genetics - 1 Oct 2001
Kerr T P, Sewry C A, Robb S A, Roberts R G
Abstract excerpt
More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%-98.6% of the full-length protein), the truncating mutations are associated with a surprisingly uniform severity of phenotype. This uniformity is probably attributable to ablation of the...
Topics
- Adolescent
- Child
- Child, Preschool
- Dystrophin
- Frameshift Mutation
- Humans
- Immunohistochemistry
- Male
- Muscle, Skeletal
- Muscular Dystrophy, Duchenne
- Phenotype
- Sequence Deletion