Disease Expression and Gene Expression Can Be Quite Distinct: Modulation of Skeletal Muscle Sodium Channels by the Human Myotonin Dystrophy Protein Kinase (HMPK)

  • J. Paul Mounsey
  • Puting Xu
  • J. Edward JohnIII
  • John Gilbert
  • Allen D. Roses
  • J. Randall Moorman
Conference paper


The genetic mutation responsible for the autosomal dominant inheritance of myotonic dystrophy (DM) is a variable triplet repeat (CTG) that is located in the 3′ untranslated region of a gene with protein kinase domains named myotonin protein kinase [1–4]. The CTG repeat segregates in the normal population and varies from 5 to 40 repeats, while in asymptomatic DM gene carriers and patients it varies from 50 to several thousand repeats. The role of the human myotonin protein kinase gene (HMPK) and the effects of the triplet repeat are unknown [2,5–7].


Myotonic Dystrophy Triplet Repeat Copyright Permission Hyperkalemic Periodic Paralysis Skeletal Muscle Sodium Channel 
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Copyright information

© Springer-Verlag Tokyo 1996

Authors and Affiliations

  • J. Paul Mounsey
    • 1
  • Puting Xu
    • 2
  • J. Edward JohnIII
    • 1
  • John Gilbert
    • 2
  • Allen D. Roses
    • 2
  • J. Randall Moorman
    • 1
  1. 1.Departments of Internal Medicine (Cardiovascular Division), Molecular Physiology, and Biological PhysicsUniversity of VirginiaCharlottsvilleUSA
  2. 2.Departments of Medicine (Neurology) and NeurobiologyDuke University Medical CenterDurhamUSA

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