Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion
- 1 February 2002
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 25 (1) , 7-16
- https://doi.org/10.1023/a:1015104910239
Abstract
Mitochondrial DNA (mtDNA) depletion syndrome (McKusick 251880) is characterized by a progressive quantitative loss of mtDNA resulting in severe mitochondrial dysfunction. A diagnosis of mtDNA...Keywords
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