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Kongenitale Myopathien

  • J. M. Schröder

Zusammenfassung

Mit der Entwicklung elektronenmikroskopischer und enzym- sowie immunhistochemischer Methoden in der Muskelbiopsiediagnostik ist es gelungen, aus dem „Sammeltopf“ unspezifischer klinischer Diagnosen wie „Amyotonia congenita“, „Myatonie“ (Oppenheim), „Myosklerose“, „Arthrogryposis multiplex congenita“, „kongenitale Muskeldystrophie“, „universale Muskelhypoplasie“, „benigne kongenitale Hypotonie“ etc. eine Vielzahl klar definierter Myopathien mit spezifischen oder charakteristischen strukturellen Veränderungen im Muskel ab-zugrenzen (Tabelle 32.1).

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