Article
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
Human molecular genetics - 1 Mar 1999
Winchester C L, Ferrier R K, Sermoni A, Clark B J, Johnson K J
Abstract excerpt
The pathogenic mechanisms underlying myotonic dystrophy (DM), which results from a (CTG) n repeat expansion mutation in the 3'-untranslated region (3'-UTR) of the myotonic dystrophy protein kinase gene ( DMPK ), remain obscure. The multisystemic nature and variable expressivity of the symptoms ar...
Topics
- Adult
- Animals
- Base Sequence
- Cataract
- DNA Primers
- Eye
- Fetus
- Gene Expression
- Humans
- Immunohistochemistry
- In Situ Hybridization
- Minisatellite Repeats
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Protein Serine-Threonine Kinases
- Reverse Transcriptase Polymerase Chain Reaction
- Trinucleotide Repeats