Article
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.
European journal of human genetics : EJHG - 1 Jan 1996
Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N
Abstract excerpt
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a CAG trinucleotide repeat in the MJD1 gene located on 14q32.1. We confirmed that the CAG expansion caused MJD in a Yemenite Jewish family and demonstrated that most of the clinical v...
Topics
- Adolescent
- Adult
- Alleles
- Chromosomes, Human, Pair 14
- Female
- Genes, Dominant
- Heterozygote
- Homozygote
- Humans
- Jews
- Machado-Joseph Disease
- Male
- Middle Aged
- Polymerase Chain Reaction
- Trinucleotide Repeats
- Yemen