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

Ying Hui Fu, David L. Friedman, Stephen Richards, Joel A. Pearlman, Richard A. Gibbs, Antonio Pizzuti, Tetsuo Ashizawa, M. Benjamin Perryman, Guglielmo Scarlato, Raymond G. Fenwick, C. Thomas Caskey

Research output: Contribution to journalArticlepeer-review

283 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)235-238
Number of pages4
JournalScience
Volume260
Issue number5105
DOIs
StatePublished - 1993

ASJC Scopus subject areas

  • General

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