A Patient with Myotonic Dystrophy Type 1(DM1) Accompanied by Laryngeal and Renal Cell Carcinomas Had a Small CTG Triplet Repeat Expansion But No Somatic Instability in Normal Tissues

DOI DOI Web Site Web Site Web Site ほか2件をすべて表示 一部だけ表示 被引用文献4件 参考文献41件 オープンアクセス
  • ABE Koji
    Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University

書誌事項

タイトル別名
  • Somatic Instability of CTG Expansion in Cancer Tissue?
  • Patient with Myotonic Dystrophy Type 1 DM1 Accompanied by Laryngeal and Renal Cell Carcinomas Had a Small CTG Triplet Repeat Expansion But No Somatic Instability in Normal Tissues

この論文をさがす

説明

We examined (CTG)n lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM1) who had a small 60-70 (CTG)n expansion in his leukocytes. He died of renal cell carcinoma 5 years after a total laryngectomy for laryngeal carcinoma. Southern blot and polymerase chain reaction analyses were done on tissues obtained at autopsy. In the various normal tissues, (CTG)n lengths were almost all the same size, whereas the renal cell carcinoma and metastatic tissues had longer lengths. When compared with the lengths in leukocytes about 5 years previously, (CTG)n lengths in the normal tissues were the same size. These findings suggest that both somatic instability and age-dependent (CTG)n expansion in DM1 patients with a small expansion may be less dominant than in patients with large expansions.<br>(Internal Medicine 41: 312-318, 2002)

収録刊行物

  • Internal Medicine

    Internal Medicine 41 (4), 253-253, 2002

    一般社団法人 日本内科学会

被引用文献 (4)*注記

もっと見る

参考文献 (41)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ