Article
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.
The American journal of pathology - 1 Dec 2010
Raheem Olayinka, Olufemi Shodimu-Emmanuel, Bachinski Linda L, Vihola Anna, Sirito Mario, Holmlund-Hampf Jeanette, Haapasalo Hannu, Li Yi-Ping, Udd Bjarne, Krahe Ralf
Abstract excerpt
The mutation that underlies myotonic dystrophy type 2 (DM2) is a (CCTG)n expansion in intron 1 of zinc finger protein 9 (ZNF9). It has been suggested that ZNF9 is of no consequence for disease pathogenesis. We determined the expression levels of ZNF9 during muscle cell differentiation and in DM2 muscle by microarray profiling, real-time RT-PCR, splice variant analysis, immunofluorescence, and Western blotting....
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