Abstract
The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show bi-allelic expression, while the sole wild-type allele was transcribed in DM muscle. Our findings support a gene dosage effect in the pathogenesis of the disease.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alleles
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Blotting, Southern
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DNA / biosynthesis
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Electrophoresis, Polyacrylamide Gel
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Fetus / metabolism
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Gene Expression Regulation, Enzymologic*
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Humans
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Muscles / enzymology*
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Mutation
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Myotonic Dystrophy / enzymology
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Myotonic Dystrophy / genetics*
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Myotonin-Protein Kinase
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Polymerase Chain Reaction
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Polymorphism, Genetic
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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 / analysis
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RNA, Messenger / genetics*
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Transcription, Genetic
Substances
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DMPK protein, human
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RNA, Messenger
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DNA
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Protein Kinases
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases