Myotonic dystrophy with no trinucleotide repeat expansion

Ann Neurol. 1994 Mar;35(3):269-72. doi: 10.1002/ana.410350305.


We report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle weakness. Results of muscle histopathology were consistent with myotonic dystrophy. Genetic analysis of leukocyte and muscle DNA showed a normal number of CTG repeats. The demonstration of normal CTG repeat number for the myotonic dystrophy gene does not exclude the diagnosis of myotonic dystrophy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscles / pathology*
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / pathology
  • Oligodeoxyribonucleotides*
  • Protein Kinases / genetics
  • Repetitive Sequences, Nucleic Acid*


  • Oligodeoxyribonucleotides
  • Protein Kinases