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Myotonische Erkrankungen und lonenkanalkrankheiten

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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 hypokaliämische periodische Paralyse, wobei auch letztere mit myotonen Symptomen kombiniert Scin können. Darüber hinaus gibt es eine weitere, lebensgefährliche Muskelkrankheit, die wiederum als Ionenkanalkrankheit identifiziert werden konnte, die aber nicht mit myotonischen Symptomen verbunden ist, nämlich die maligne Hyperthermie. Demgegenüber beruht die myotonische Dystrophie auf einem Defekt der Myotoninproteinkinase, nicht aber primär auf einer Ionenkanalstörung.

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© 2002 Springer-Verlag Berlin Heidelberg

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Schröder, J.M. (2002). Myotonische Erkrankungen und lonenkanalkrankheiten. In: Peiffer, J., Schröder, J.M., Paulus, W. (eds) Neuropathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59371-0_35

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  • DOI: https://doi.org/10.1007/978-3-642-59371-0_35

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-63951-7

  • Online ISBN: 978-3-642-59371-0

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