Journal
SCIENCE
Volume 293, Issue 5531, Pages 864-867Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1062125
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Funding
- NCI NIH HHS [CA56266] Funding Source: Medline
- NHGRI NIH HHS [HG002051] Funding Source: Medline
- NINDS NIH HHS [NS35870] Funding Source: Medline
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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 similar to 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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