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- W1414581036 abstract "The DMPK gene encodes a protein, which on the basis of sequence similarity, is a member of the protein kinase gene family. The gene is implicated in the disorder myotonic dystrophy (dystrophia myotonica, DM), the most common form of muscular dystrophy affecting adults. The 3' untranslated region of this gene contains a repeated trinucleotide DNA sequence (CTG), which is greatly expanded in DM patients. In normal individuals 5–28 copies of this repeat are present. Myotonic dystrophy patients may have anything from 50 to several thousand copies of this repeat. Studies on the effect of the expanded repeat on DMPK RNA levels in myotonic dystrophy patients are contradictory. Three studies indicate that the DMPK RNA level is reduced in DM patients and one study indicates that the level is increased. Reduced protein levels have also been suggested in one report. Recombinant DM protein kinase has been shown to phosphorylate itself and transphosphorylate histone HI. In both recombinant DM protein kinase and histone HI, threonine (predominantly) and serine were phosphorylated." @default.
- W1414581036 created "2016-06-24" @default.
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- W1414581036 date "1995-01-01" @default.
- W1414581036 modified "2023-09-23" @default.
- W1414581036 title "DMPK" @default.
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- W1414581036 doi "https://doi.org/10.1016/b978-012324719-3/50026-1" @default.
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