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PMID: 15676109 Published · ppublish English Journal Article Review

Genetics and molecular pathogenesis of the myotonic dystrophies.

Current neurology and neuroscience reports ·Vol. 5 ·No. 1 ·2005-02-00 ·Pages 55-9

Day JW, Ranum LP

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.

MeSH Terms
DNA Repeat Expansion Humans Myotonic Dystrophy/etiology,genetics,metabolism,pathology
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Day John W
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
Ranum Laura P W
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Article Info
Journal
Current neurology and neuroscience reports
Abbr.
Curr Neurol Neurosci Rep
ISSN
1528-4042
DOI
10.1007/s11910-005-0024-1
Email
johnday@umn.edu
Published
2005-02-00
Pages
55-9
Language
English
Region
United States
NLM ID
100931790
Subset
IM
External Links
PubMed source DOI: 10.1007/s11910-005-0024-1 View journal details
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