Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
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Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick RG Jr, et al.
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
Science. 1993 Apr 9;260(5105):235-8.
- PubMed ID
- 8469976 [ View in PubMed]
- 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.