Dystrophin-related muscular dystrophies.
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.
Witkowski
J A
JA
Banbury Center, Cold Spring Harbor Laboratory, NY 11724.
D000818:Animals; D002648:Child; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D016189:Dystrophin; D006801:Humans; D007231:Infant, Newborn; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000628:therapy; D009137:Muscular Dystrophy, Animal / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D015342:DNA Probes; D016189:Dystrophin; D009124:Muscle Proteins; D004247:DNA