Molecular genetics of myotonic dystrophy |
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| Authors: | Perryman M B Friedman D L Fu Y H Caskey C T |
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| Affiliation: | Division of Cardiology, the University of Colorado Health Sciences Center, Denver, CO 80262 USA. |
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| Abstract: | Myotonic muscular dystrophy (DM) has been shown to be caused by the expansion of an unstable triplet nucleotide repeat sequence located in the 3' untranslated region of a gene coding for a putative serine-threonine protein kinase. Isolation of genomic and cDNA clones for the DM kinase have significantly simplified the genetic diagnosis of DM. The cellular localization, enzymatic activity, and role in the pathophysiology of DM of the kinase protein are as yet unknown. |
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