Article
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jan 1993
Bushby K M, Goodship J A, Nicholson L V, Johnson M A, Haggerty I D, Gardner-Medwin D
Abstract excerpt
We have analysed the results of clinical assessment, X-inactivation status, deletion screening and dystrophin analysis in eight manifesting carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Only two had a prior family history of X-linked muscle disease, all had normal karyotypes a...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Dystrophin
- Family
- Female
- Gene Deletion
- Genetic Carrier Screening
- Humans
- Karyotyping
- Male
- Middle Aged
- Muscles
- Muscular Dystrophies
- Mutation
- Polymerase Chain Reaction
- X Chromosome