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    Science. 1993 Apr 9;260(5105):235-8.

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

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

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

    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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    PMID:
    8469976
    [PubMed - indexed for MEDLINE]

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