Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
SourceJournal of Inherited Metabolic Disease, 26, 8, (2003), pp. 813-815
Article / Letter to editor
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Journal of Inherited Metabolic Disease
SubjectUMCN 1.3: Tumor microenvironment; UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism; UMCN 5.4: Renal disorders
A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.
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