Bilateral extraocular muscle atrophy in myotonic dystrophy type 1

Neurology. 2004 Aug 24;63(4):759-60. doi: 10.1212/01.wnl.0000134678.45047.f4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Clubfoot / genetics
  • Diagnosis, Differential
  • Diplopia / genetics
  • Disease Progression
  • Dysarthria / genetics
  • Facial Muscles / pathology
  • Genes, Dominant
  • Humans
  • Male
  • Muscular Atrophy / etiology*
  • Myotonic Dystrophy / genetics
  • Myotonic Dystrophy / pathology*
  • Myotonin-Protein Kinase
  • Oculomotor Muscles / pathology*
  • Ophthalmoplegia / diagnosis
  • Ophthalmoplegia / genetics*
  • Ophthalmoplegia, Chronic Progressive External / diagnosis
  • Palate / abnormalities
  • Protein Serine-Threonine Kinases / genetics
  • Trinucleotide Repeats

Substances

  • DMPK protein, human
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases