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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5531
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pubmed:dateCreated |
2001-8-3
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pubmed:abstractText |
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0036-8075
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
3
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pubmed:volume |
293
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
864-7
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pubmed:dateRevised |
2008-5-13
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pubmed:meshHeading |
pubmed-meshheading:11486088-Alleles,
pubmed-meshheading:11486088-Blotting, Southern,
pubmed-meshheading:11486088-Chromosome Mapping,
pubmed-meshheading:11486088-Chromosomes, Human, Pair 3,
pubmed-meshheading:11486088-DNA-Binding Proteins,
pubmed-meshheading:11486088-Diseases in Twins,
pubmed-meshheading:11486088-Female,
pubmed-meshheading:11486088-Humans,
pubmed-meshheading:11486088-In Situ Hybridization, Fluorescence,
pubmed-meshheading:11486088-Introns,
pubmed-meshheading:11486088-Linkage Disequilibrium,
pubmed-meshheading:11486088-Lod Score,
pubmed-meshheading:11486088-Male,
pubmed-meshheading:11486088-Microsatellite Repeats,
pubmed-meshheading:11486088-Muscles,
pubmed-meshheading:11486088-Mutation,
pubmed-meshheading:11486088-Myotonic Dystrophy,
pubmed-meshheading:11486088-Phenotype,
pubmed-meshheading:11486088-Polymerase Chain Reaction,
pubmed-meshheading:11486088-RNA, Messenger,
pubmed-meshheading:11486088-RNA-Binding Proteins,
pubmed-meshheading:11486088-Twins, Monozygotic,
pubmed-meshheading:11486088-Zinc Fingers
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pubmed:year |
2001
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pubmed:articleTitle |
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
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pubmed:affiliation |
Institute of Human Genetics; MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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