John W. Day, MD, PhD

Publication Details

  • Genetics and molecular pathogenesis of the myotonic dystrophies. Current neurology and neuroscience reports Day, J. W., Ranum, L. P. 2005; 5 (1): 55-59


    Pathogenic repeat expansions were initially identified as causing either a loss of gene product, such as in fragile X mental retardation, or an expansion of a polyglutamine region of a protein, as was first shown in spinobulbar muscular atrophy (Kennedy's disease). The pathogenic effect of the repeat expansion in myotonic dystrophy type 1, however, has been controversial because it does not encode a protein but nonetheless results in a highly penetrant dominant disease. Clinical and molecular characterization of myotonic dystrophy types 1 and 2 have now demonstrated a novel disease mechanism involving pathogenic effects of repeat expansions that are expressed in RNA but are not translated into protein.

    View details for PubMedID 15676109

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