Article
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
European journal of human genetics : EJHG - 1 Nov 2018
Cumming Sarah A, Hamilton Mark J, Robb Yvonne, Gregory Helen, McWilliam Catherine, Cooper Anneli, Adam Berit, McGhie Josephine, Hamilton Graham, Herzyk Pawel, Tschannen Michael R, Worthey Elizabeth, Petty Richard, Ballantyne Bob, Warner Jon, Farrugia Maria Elena, Longman Cheryl, Monckton Darren G
Abstract excerpt
Myotonic dystrophy type 1 (DM1) is a multisystem disorder, caused by expansion of a CTG trinucleotide repeat in the 3'-untranslated region of the DMPK gene. The repeat expansion is somatically unstable and tends to increase in length with time, contributing to disease progression. In some individuals, the repeat array is interrupted by variant repeats such as CCG and CGG, stabilising the expansion and often...
Topics
- Adult
- Aged
- Alleles
- Female
- Humans
- Male
- Middle Aged
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Pedigree