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DMPK protein isoforms are differentially expressed in myogenic and neural cell lineages
Muscle & Nerve, 07/28/09
Ophuis RJAO et al. – Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by an unstable (CTG · CAG)n segment in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. It is commonly accepted that DMPK mRNA–based toxicity is the main contributor to DM1 manifestations; however, not much is known about the significance of the DMPK protein. This work identifies DMPK as a kinase with pronounced expression in diverse muscle and neural tissues that are affected in DM1.
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