Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy

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Science  09 Apr 1993:
Vol. 260, Issue 5105, pp. 235-238
DOI: 10.1126/science.8469976


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.