Article
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.
Human molecular genetics - 15 Aug 2012
Morales Fernando, Couto Jillian M, Higham Catherine F, Hogg Grant, Cuenca Patricia, Braida Claudia, Wilson Richard H, Adam Berit, del Valle Gerardo, Brian Roberto, Sittenfeld Mauricio, Ashizawa Tetsuo, Wilcox Alison, Wilcox Douglas E, Monckton Darren G
Abstract excerpt
Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG repeat that shows extremely high levels of somatic instability. This somatic instability has compromised attempts to measure intergenerational repeat dynamics and infer genotype-phenotype...
Topics
- Age of Onset
- Aged
- Alleles
- Genetic Association Studies
- Genomic Instability
- Haploinsufficiency
- Homeodomain Proteins
- Humans
- Middle Aged