Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy by Fu Y H, Friedman D L, Richards S, Pearlman J A, Gibbs R A, Pizzuti A, Ashizawa T, Perryman M B, Scarlato G, Fenwick R G in Science (New York, N.Y.) (1993).

[PMID: 8469976] PubMed


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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