High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient

J Med Genet. 1994 Nov;31(11):891-2. doi: 10.1136/jmg.31.11.891.

Abstract

CTG triplet expansion was studied in lymphocytes and thyroid tissue in a patient with myotonic dystrophy (DM) and associated thyroid nodular disease. An approximately 7 fold larger amplification was found in abnormal thyroid tissue compared to lymphocytes, suggesting that anomalies in the putative DM kinase gene might contribute to thyroid dysfunction.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adult
  • DNA / analysis
  • Female
  • Humans
  • Lymphocytes / chemistry
  • Mosaicism
  • Myotonic Dystrophy / complications
  • Myotonic Dystrophy / genetics*
  • Repetitive Sequences, Nucleic Acid*
  • Thyroid Diseases / complications
  • Thyroid Diseases / genetics
  • Thyroid Gland / chemistry*

Substances

  • DNA