Phenotyping mtDNA-related diseases in childhood: a cohort study of 150 patients.
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DOI: 10.1111/ene.15814
Abstract: Mitochondrial diseases (MDs) are heterogeneous disorders caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) associated with specific syndromes. However, especially in childhood, patients often display heterogeneity. Several reports on the biochemical and… read more here.
Keywords: diseases childhood; phenotyping mtdna; related diseases; mtdna ... See more keywords