Article
Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype.
The Israel Medical Association journal : IMAJ - 1 Feb 2003
Nevo Yoram, Muntoni Francesco, Sewry Caroline, Legum Cyril, Kutai Miriam, Harel Shaul, Dubowitz Victor
Abstract excerpt
BACKGROUND: The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD) phenotype. OBJECTIVES: To describe unusual cases with large in-frame deletions of the...
Topics
- Dystrophin
- Humans
- Infant
- Male
- Muscular Dystrophies
- Phenotype
- Polymerase Chain Reaction