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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Alternative Splicing
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Amino Acid Sequence
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Base Sequence
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Gene Expression
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Humans
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Molecular Sequence Data
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Molecular Weight
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Muscles / chemistry
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Muscles / metabolism*
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Myotonic Dystrophy / genetics*
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Myotonic Dystrophy / metabolism
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Myotonin-Protein Kinase
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Polymerase Chain Reaction
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Protein Kinases / biosynthesis
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Protein Kinases / chemistry
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Protein Kinases / genetics*
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Protein Serine-Threonine Kinases*
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RNA, Messenger / genetics*
Substances
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DMPK protein, human
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RNA, Messenger
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Protein Kinases
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases