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Myotonische Erkrankungen und Ionenkanalkrankheiten

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Pathologie

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Zusammenfassung

Die myotonischen Erkrankungen bestehen aus einer Gruppe von heterogenen, zumeist erblichen Krankheiten, denen das Symptom Myotonie gemeinsam ist. Einige davon werden jetzt den Ionenkanalkrankheiten zugerechnet, nämlich die dominant und die rezessiv erbliche Myotonia congenita, die Paramyotonia congenita und die hyper-, und die hypokaliämischen periodischen Paralysen, wobei letztere auch myotone Symptome aufweisen können. Demgegenüber beruht die myotonische Dystrophie auf einem Defekt der Myotoninproteinkinase, nicht aber primär auf einer Ionenkanalstörung. Davon abzugrenzen sind die lebensgefährlichen malignen Hyperthermien, die den Ionenkanalkrankheiten nur teilweise oder indirekt zugeordnet werden können und nicht mit myotonen Symptomen verbunden sind. Unter den Ionenkanalkrankheiten sind jeweils die Chlorid-, Natrium-,

Calcium- und Kaliumkanalkrankheiten zu differenzieren und von den verschiedenen Formen von malignen Hyperthermien und schließlich auch vom malignen neuroleptischen Syndrom abzugrenzen.

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Authors and Affiliations

  1. Institut für Neuropathologie, Universitätsklinikum der Rheinisch-Westfälischen Technischen Hochschule (RWTH) Aachen, Pauwelsstraße 30, 52074, Aachen, Deutschland

    J. Michael Schröder

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  1. J. Michael Schröder
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Editors and Affiliations

  1. Institut für Pathologie Konsultationszentrum für Pankreas- und Endokrine Tumore, TU München, Ismaninger Straße 22, 81675, München, Deutschland

    Günter Klöppel (Werkherausgeber) (Werkherausgeber)

  2. Zentrum Pathologie und Rechtsmedizin, Medizinische Hochschule Hannover (MHH), Carl-Neuberg-Straße 1, 30625, Hannover, Deutschland

    Hans H. Kreipe (Werkherausgeber) (Werkherausgeber)

  3. Institut für Pathologie, Kliniken der Landeshauptstadt, Ludwig-Erhard-Straße 100, 65199, Wiesbaden, Deutschland

    Wolfgang Remmele (Werkherausgeber) (Werkherausgeber)

  4. Institut für Neuropathologie, Universitätsklinikum Münster, Domagkstraße 19, 48149, Münster, Deutschland

    Werner Paulus (Bandherausgeber) (Bandherausgeber)

  5. Institut für Neuropathologie, Universitätsklinikum der Rheinisch-Westfälischen Technischen Hochschule (RWTH) Aachen, Pauwelsstraße 30, 52074, Aachen, Deutschland

    J. Michael Schröder (Bandherausgeber) (Bandherausgeber)

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Schröder, J. (2012). Myotonische Erkrankungen und Ionenkanalkrankheiten. In: Klöppel, G., Kreipe, H., Remmele, W., Paulus, W., Schröder, J. (eds) Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02324-8_32

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  • DOI: https://doi.org/10.1007/978-3-642-02324-8_32

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