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SourceMolecular Genetics and Metabolism, 120, 3, (2017), pp. 243-246
Article / Letter to editor
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Paediatrics - OUD tm 2017
Molecular Genetics and Metabolism
SubjectRadboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. Variants in NDUFAF3 have been identified as a cause of severe multisystem mitochondrial disease. In a patient presenting with Leigh syndrome, which has hitherto not been described as a clinical feature of NDUFAF3 deficiency, we identified a novel homozygous variant and confirmed its pathogenicity in patient fibroblasts studies. Furthermore, we present an analysis of complex I assembly routes representative of each functional module and, thereby, link NDUFAF3 to a specific step in complex I assembly. Therefore, our report expands the phenotype of NDUFAF3 deficiency and further characterizes the role of NDUFAF3 in complex I biogenesis.
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