Der mitochondrialer Diabetes mellitus beruht auf Mutationen von Genen, die mit den Mitochondrien übertragen werden. Deshalb erfolgt die Vererbung nur über die mütterliche Linie. Die Ausprägung der Erkrankung ist recht unterschiedlich, da sie von dem zufälligen Anteil veränderter Mitochondrien abhängt. In variablem Maße können auch andere Organe betroffen sein.
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Orphanet article Orphanet ID 225 |
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OMIM.ORG article Omim 520000 |