Mutants in Duchenne Muscular Dystrophy
- 1 January 1988
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 45 (1) , 84-85
- https://doi.org/10.1001/archneur.1988.00520250090026
Abstract
Duchenne muscular dystrophy (DMD) is inherited as an X-linked recessive disease that behaves as a lethal trait.1Males who inherit the mutations become disabled and die before they have children. It was elegantly stated by J. B. S. Haldane2in 1935 that, for genetic disorders in which the mutation rate in males and females were equal, a third of the affected cases in the population in each generation would be due to new mutations. For more than a decade there has been a controversy concerning the site of the new mutations in DMD.3-10Resolution of this controversy will have major ramifications for both genetic counseling and preventive screening. When faced with a sporadic case of DMD, most genetic clinics assume that there is a 66% chance that the mother is a genetic carrier and a 33% chance that the affected male represents a new mutant that occurredKeywords
This publication has 3 references indexed in Scilit:
- Complex segregation analysis and computer‐assisted genetic risk assessment for Duchenne muscular dystrophyAmerican Journal of Medical Genetics, 1983
- Frequency of new mutants among boys with Duchenne muscular dystrophyAmerican Journal of Medical Genetics, 1980
- The rate of spontaneous mutation of a human geneJournal of Genetics, 1935