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Article
Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy
A patient with a deficient voltage-dependent anion channel (VDAC) is reported, presenting clinically with psychomotor retardation and minor dysmorphic features. Biochemical studies on muscle mitochondria showe...
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Article
Importance of mitochondrial transmembrane processes in human mitochondriopathies
In a substantial group of subjects suspected to have a mitochondriopathy no defect in the mitochondrial energy metabolism (pyruvate dehydrogenase complex or respiratory chain complexes) can be demonstrated. At...