Article
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.
European journal of human genetics : EJHG - 1 Jun 2000
Martorell L, Monckton D G, Gamez J, Baiget M
Abstract excerpt
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK. Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have...
Topics
- Adolescent
- Adult
- Age Factors
- Alleles
- Anticipation, Genetic
- Child
- Humans
- Infant
- Male
- Middle Aged
- Mosaicism
- Myotonic Dystrophy
- Pedigree
- Polymerase Chain Reaction
- Spermatozoa
- Trinucleotide Repeat Expansion