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Science 9 April 1993:
Vol. 260. no. 5105, pp. 235 - 238
DOI: 10.1126/science.8469976
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Articles

Science, Vol 260, Issue 5105, 235-238
Copyright © 1993 by American Association for the Advancement of Science

articles

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

YH Fu, DL Friedman, S Richards, JA Pearlman, RA Gibbs, A Pizzuti, T Ashizawa, MB Perryman, G Scarlato, RG Fenwick Jr, and al. et

Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.

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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