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Curr Neurol Neurosci Rep. 2005 Feb;5(1):55-9.

Genetics and molecular pathogenesis of the myotonic dystrophies.

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Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, Minneapolis, MN 55455, USA.


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.

[Indexed for MEDLINE]

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