CORDIS Project
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This project investigates mitochondrial disorders in children caused by respiratory chain complex I deficiency. It aims to identify genetic mutations and understand the cellular mechanisms involved, ultimately providing insights for genetic counseling and potential therapeutic targets.
The final goal of the project is to better understand the mechanisms involved in mitochondrial disorders in children caused by the isolated or combined respiratory chain complex I deficiency.
Mitochondrial disorders are the most frequent cause of inborn metabolic errors, affecting 1 individual in 5000.
Symptoms begin at birth or in early childhood in most cases and generally present as multi-system disorders with a fatal outcome.
The majority of the patients die within a few years of the first c…
OULUN YLIOPISTO
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