| 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 |
| Journal | Science |
| Volume | 260 |
| Issue | 5105 |
| Pagination | 235-8 |
| Date Published | 1993 Apr 09 |
| ISSN | 0036-8075 |
| 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 |
| Abstract | 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. |
| DOI | 10.1126/science.8469976 |
| Alternate Journal | Science |
| PubMed ID | 8469976 |
| Grant List | P30-HG00210 / HG / NHGRI NIH HHS / United States |