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Kongenitale Myopathien

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Pathologie

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Zusammenfassung

Die kongenitalen Myopathien sind eine heterogene Gruppe neuromuskulärer Krankheiten, die auf der Grundlage der überwiegenden pathologischen Veränderungen in der Muskelbiopsie (z. B. Kernstellungsanomalien, Nemalin-Stäbchen, Cores u. a.) in verschiedene Untergruppen unterteilt werden. Sie sind in der Regel wenig progressiv, doch gibt es Ausnahmen mit eindeutiger und manchmal relativ rascher Progredienz. Bei gleichem Genotyp, sogar bei identischer Mutation, kann es stark unterschiedliche klinische Phänotypen geben (z. B. bei der mitochondrial vererbten typischen MELAS-Mutation), andererseits können klinisch gleichartige Krankheitsbilder auf unterschiedliche Gene zurückgeführt werden (z. B. bei der Nemalin-Myopathie). Zu differenzieren sind: Myopathien mit Kern- oder Kernstellungsanomalien, myofibrilläre Myopathien, kongenitale Fasertypendisproportionen, mitochondriale Myopathien, myopathien mit tubulären Aggregaten, Myopathien mit besonderen feinstrukturellen Veränderungen, die Hypertrophia musculorum vera, kongenitale Myopathien mit fataler Kardiomyopathie, Myopathie mit minimalen Veränderungen ("minimal change myopathy") u. a.

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  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. 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). Kongenitale Myopathien. 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_31

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