Article
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.
PloS one - 13 Jan 2010
Walmsley Gemma L, Arechavala-Gomeza Virginia, Fernandez-Fuente Marta, Burke Margaret M, Nagel Nicole, Holder Angela, Stanley Rachael, Chandler Kate, Marks Stanley L, Muntoni Francesco, Shelton G Diane, Piercy Richard J
Abstract excerpt
BACKGROUND: Duchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Most affected patients have inherited or spontaneous deletions in the dystrophin gene that disrupt the reading frame resulting in unstable truncated products. For these...
Topics
- Animals
- Base Sequence
- Disease Models, Animal
- Dogs
- Dystrophin
- Exons
- Immunohistochemistry
- Male
- Muscular Dystrophy, Duchenne
- Mutation
- Phenotype
- Polymorphism, Restriction Fragment Length
- RNA, Messenger