Article
Premature chain termination mutation causing Duchenne muscular dystrophy.
Neurology - 1 Sept 1992
Clemens P R, Ward P A, Caskey C T, Bulman D E, Fenwick R G
Abstract excerpt
We identified a premature chain termination mutation in two brothers with Duchenne muscular dystrophy and correlated the mutation in one of the brothers with immunologic detection of dystrophin in skeletal muscle. Southern and polymerase chain reaction (PCR) studies of genomic DNA from the affected boys showed no major gene rearrangements. However, the noted absence of a HindIII Southern fragment containing the...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Deoxyribonuclease HindIII
- Dystrophin
- Humans
- Immunohistochemistry
- Male
- Molecular Sequence Data
- Muscular Dystrophies
- Mutation