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      Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

      Science

      American Association for the Advancement of Science (AAAS)

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          Abstract

          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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          Author and article information

          Journal
          Science
          American Association for the Advancement of Science (AAAS)
          00368075
          10959203
          August 3 2001
          : 293
          : 5531
          : 864-867
          Article
          10.1126/science.1062125
          11486088
          © 2001

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