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Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

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Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

Y H Fu et al. Science.

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.

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