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Publisher's URL: http://dx.doi.org/10.1016/1043-4682(95)90010-1
Myotonic dystrophy (DM) is caused by the amplification of CTG repeats in the 3 untranslated region of a gene encoding a protein homologous to serine/threonine protein kinases. In DM patients the CTG repeats are extremely unstable, varying in length from patient to patient and generally increasing in length in successive generations. There is a strong correlation between the size of the repeats and the age of onset and severity of the disease. The molecular basis of the effect of the CTG expansion on the development of the DM phenotype continues to be investigated. The first working hypothesis of the molecular mechanism of DM was a reduction in steady-state myotonin-protein kinase (Mt-PK) mRNA and protein levels. However, although the consensus finding is that the Mt PK mRNA and protein levels are decreased in DM patients, it is still not clear if this reduction leads directly to the DM phenotype. In this short review we discuss the molecular aspects of CTG instability and the expression of the myotonin-protein kinase gene in normal and DM populations.
|Glasgow Author(s) Enlighten ID:||Monckton, Professor Darren|
|Authors:||Timchenko, L., Monckton, D.G., and Caskey, C.T.|
|Subjects:||Q Science > QH Natural history > QH301 Biology|
R Medicine > RA Public aspects of medicine
|College/School:||College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology|
|Journal Name:||Seminars in Cell Biology|
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