Article
Myotonic dystrophy: molecular analysis of Israeli patients.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994
Abeliovich D, Lerer I, Pashut-Lavon I, Cohen T
Abstract excerpt
Myotonic dystrophy (DM) is an autosomal dominant, multisystem disorder and the most common adult form of muscular dystrophy. The age of onset and degree of severity of DM is highly variable. The biochemical defect in DM is unknown. DM was the first autosomal disorder to be localised by genetic linkage to protein markers (Lu, Se, C3), and assigned to chromosome 19. Linkage studies in DM families using RFLPs as...
Topics
- Alleles
- DNA, Complementary
- Female
- Genetic Linkage
- Humans
- Israel
- Linkage Disequilibrium
- Male
- Myotonic Dystrophy
- Pedigree
- Sex Factors
