|Title||Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.|
|Publication Type||Journal Article|
|Year of Publication||1993|
|Authors||Fu, YH, Friedman, DL, Richards, S, Pearlman, JA, Gibbs, RA, Pizzuti, A, Ashizawa, T, Perryman, MB, Scarlato, G, Fenwick, RG|
|Date Published||1993 Apr 09|
|Keywords||Adult, Alternative Splicing, Amino Acid Sequence, Base Sequence, Gene Expression, Humans, Molecular Sequence Data, Molecular Weight, Muscles, Myotonic Dystrophy, Myotonin-Protein Kinase, Polymerase Chain Reaction, Protein Kinases, Protein-Serine-Threonine Kinases, RNA, Messenger|
The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.
|Grant List||P30-HG00210 / HG / NHGRI NIH HHS / United States|