Article
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
Human molecular genetics - 1 Jun 1999
Korade-Mirnics Z, Tarleton J, Servidei S, Casey R R, Gennarelli M, Pegoraro E, Angelini C, Hoffman E P
Abstract excerpt
Myotonic dystrophy (DM), the most common inherited muscle disorder, is caused by a CTG expansion in the 3"-untranslated region of a protein kinase gene ( DMPK ). The complex and variable phenotype is most likely caused by a complex molecular pathogenesis, including deficiency of the DMPK protein, a trans -dominant misregulation of RNA homeostasis and haploinsufficiency of a neighboring homeobox gene [DM...
Topics
- Adult
- Alleles
- Autopsy
- Biopsy
- Child
- Female
- Gene Expression
- Gene Expression Regulation
- Genotype
- Homeodomain Proteins
- Humans
- Middle Aged
- Muscles
- Myotonic Dystrophy
- RNA, Messenger