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Mitochondriopathien sind eine klinisch, biochemisch und genetisch ausgesprochen heterogene Krankheitsgruppe mit Mutationen in mehr als 250 Genen, wobei ein Teil davon im mitochondrialen Genom liegt, der Großteil aber im Kerngenom. Die Verteilung der Mutationen auf eine derart große Anzahl an Genen verschaffte den Mitochondriopathien eine Vorreiterrolle bei der Einführung der Next-Generation-Sequenzierung...
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