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

Genetics and molecular pathogenesis of the myotonic dystrophies.

Author information

1
Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, Minneapolis, MN 55455, USA. johnday@umn.edu

Abstract

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.

PMID:
15676109
[Indexed for MEDLINE]

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