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

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Malignant Hyperthermia

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Abstract

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].

This work was published in part in the Journal of Clinical Investigation (95:2379–2384) 1995

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Author information

Authors and Affiliations

  1. Departments of Internal Medicine (Cardiovascular Division), Molecular Physiology, and Biological Physics, University of Virginia, Charlottsville, VA, 22908, USA

    J. Paul Mounsey, J. Edward John III & J. Randall Moorman

  2. Departments of Medicine (Neurology) and Neurobiology, Duke University Medical Center, Durham, NC, 27710, USA

    Puting Xu, John Gilbert & Allen D. Roses

Authors
  1. J. Paul Mounsey
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  2. Puting Xu
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  3. J. Edward John III
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  4. John Gilbert
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  5. Allen D. Roses
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  6. J. Randall Moorman
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Editor information

Editors and Affiliations

  1. Chugoku Rosai General Hospital, Hiroshima University, 737-01, Kure, Hiroshima, Japan

    Michio Morio M.D., Ph.D. (Professor Emeritus, Director General) (Professor Emeritus, Director General)

  2. The First Department of Anesthesiology, Toho University School of Medicine, Ohta-ku, Tokyo, 143, Japan

    Hirosato Kikuchi M.D., Ph.D. (Chairman and Professor) (Chairman and Professor)

  3. Department of Anesthesiology and Critical Care Medicine, Hiroshima University School of Medicine, Hiroshima, 734, Japan

    Osafumi Yuge M.D., Ph.D. (Professor and Chairman) (Professor and Chairman)

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© 1996 Springer-Verlag Tokyo

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Mounsey, J.P., Xu, P., John, J.E., Gilbert, J., Roses, A.D., Moorman, J.R. (1996). Disease Expression and Gene Expression Can Be Quite Distinct: Modulation of Skeletal Muscle Sodium Channels by the Human Myotonin Dystrophy Protein Kinase (HMPK). In: Morio, M., Kikuchi, H., Yuge, O. (eds) Malignant Hyperthermia. Springer, Tokyo. https://doi.org/10.1007/978-4-431-68346-9_14

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  • DOI: https://doi.org/10.1007/978-4-431-68346-9_14

  • Publisher Name: Springer, Tokyo

  • Print ISBN: 978-4-431-68348-3

  • Online ISBN: 978-4-431-68346-9

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