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

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Author(s)

Abstract

We examined (CTG)<sub>n</sub> lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM1) who had a small 60-70 (CTG)<sub>n</sub> 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)<sub>n</sub> 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)<sub>n</sub> lengths in the normal tissues were the same size. These findings suggest that both somatic instability and age-dependent (CTG)<sub>n</sub> 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)

Journal

  • Internal Medicine

    Internal Medicine 41(4), 312-318, 2002-04

    The Japanese Society of Internal Medicine

References:  38

Cited by:  1

Codes

  • NII Article ID (NAID)
    10008354834
  • NII NACSIS-CAT ID (NCID)
    AA10827774
  • Text Lang
    ENG
  • Article Type
    Journal Article
  • ISSN
    09182918
  • NDL Article ID
    6262858
  • NDL Source Classification
    ZS21(科学技術--医学--内科学)
  • NDL Call No.
    Z53-M398
  • Data Source
    CJP  CJPref  NDL  J-STAGE 
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