Witkowski, J. A. (October 1989) Dystrophin-related muscular dystrophies. Journal of Child Neurology, 4 (4). pp. 251-71. ISSN 0883-0738 (Print)0883-0738
Abstract
The gene for the locus involved in Duchenne and Becker muscular dystrophies has been cloned and subject to intense analysis. The protein product of the locus is called dystrophin, and it has been shown to be associated with the muscle fiber membrane. The new knowledge of the molecular genetics of these disorders is being applied rapidly in clinical practice. Carrier detection and prenatal diagnosis have been revolutionized by the use of probes for the gene. These probes are also being employed to clarify cases where conventional clinical examination results in equivocal diagnoses. It is suggested that the disorders characterized by dystrophin abnormalities should be called dystrophin-related muscular dystrophies (DRMD). There are mouse and dog models for DRMD and these are being used to explore therapeutic strategies for treating DRMD patients.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | Animals Child Chromosome Deletion Cloning, Molecular DNA/genetics DNA Probes Dystrophin Humans Infant, Newborn Muscle Proteins/*genetics Muscular Dystrophies/*genetics/therapy Muscular Dystrophy, Animal/genetics Pedigree Polymorphism, Restriction Fragment Length |
| Subjects: | diseases & disorders > congenital hereditary genetic diseases > muscular dystrophy |
| CSHL Authors: | |
| Communities: | Banbury Center |
| Depositing User: | Matt Covey |
| Date: | October 1989 |
| Date Deposited: | 21 Jul 2014 19:41 |
| Last Modified: | 21 Jul 2014 19:41 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/30457 |
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