PMID: 8988229Dec 16, 1996Paper

Normal levels of DM RNA and myotonin protein kinase in skeletal muscle from adult myotonic dystrophy (DM) patients

Biochimica Et Biophysica Acta
S BhagavatiB Leung

Abstract

A major question about the pathogenesis of myotonic dystrophy (DM) is how the (CTG)n repeat mutation alters expression of the DM gene and how that is related to disease causation. Most previous studies have found a decrease in DM RNA and protein in patient tissue. In contrast to these reports we find, unexpectedly, that independent of the size of the CTG repeat: (1) there are equal levels of RNA products of mutant and normal alleles, and (2) levels of Mt-PK in skeletal muscle from DM patients is unaltered from normal. These findings are consistent with the recent hypothesis that mutant DM DNA or RNA may cause disease by disrupting the function of other, yet unidentified, genes.

References

Jun 6, 1995·Proceedings of the National Academy of Sciences of the United States of America·L TimchenkoC T Caskey
Mar 1, 1995·The Journal of Cell Biology·K L TanejaR H Singer

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Citations

Nov 10, 2001·Annual Review of Genomics and Human Genetics·C J Cummings, H Y Zoghbi
Jun 4, 1998·Current Opinion in Genetics & Development·S J TapscottC D Laird
Aug 1, 1992·Matrix : Collagen and Related Research·P RooneyJ McClure
Mar 2, 2010·Biochimica Et Biophysica Acta·Francesca FornerSergio Salvatori
Mar 15, 2000·Muscle & Nerve·L S KrivickasW R Frontera
Aug 30, 2001·Physiological Genomics·D J MistryJ P Mounsey
Aug 18, 2020·Neurology. Genetics·Alfonsina Ballester-LopezGisela Nogales-Gadea

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