Zusammenfassung
Die myotonen Dystrophien Typ 1 (DM 1) und Typ 2 (DM 2) sind zusammengefasst die häufigsten Muskelerkrankung des Erwachsenenalters in Europa (Prävalenz ca. 5.5 – 8 /100000). Bei der DM 1 und DM 2, um die es in diesem Kapitel geht, handelt es sich um autosomal-dominant vererbte multisystemische Erkrankungen, deren Hauptsymptome eine distal betonte Muskelschwäche, Myotonie und Katarakt sind. Der myotonen Dystrophie Typ 1 liegt eine CTG-Repeat-Expansion auf Chromosom 19q13.3 am nichttranslatierten 3’-Ende des Gens für die Dystrophia-myotonica-Proteinkinase (DMPK) zugrunde.
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Schara, U., Schneider-Gold, C. (2015). Myotone Dystrophie Typ 1 (DM1/Curschmann-Steinert-Erkrankung). In: Klinik und Transition neuromuskulärer Erkrankungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44239-5_20
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DOI: https://doi.org/10.1007/978-3-662-44239-5_20
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