A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

Abstract excerpt

Mitochondrial disorders have notoriously variable clinical presentations, particularly in children. A growing number of reports describe mutations in the mitochondrial DNA (mtDNA)-encoded subunits of complex I (EC 1.6.5.3) causing early-onset encephalopathy. Here, we describe two Korean siblings with childhood-onset progressive generalized dystonia and one Korean child with strokelike episodes in infancy; all...

Topics

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• Amino Acid Sequence
• Asian People
• Basal Ganglia
• Child, Preschool
• DNA, Mitochondrial