Journal
PEDIATRIC RESEARCH
Volume 61, Issue 5, Pages 622-624Publisher
NATURE PUBLISHING GROUP
DOI: 10.1203/pdr.0b013e3180459f2d
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- NINDS NIH HHS [P01NS11766] Funding Source: Medline
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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 three had bilateral lesions of the basal ganglia and partial deficiencies of complex 1. Analysis of their mtDNA revealed a novel heteroplasmic m.10197G > A mutation (A47T) in the ND3 (NADH dehydrogenase subunit 3) gene. This study underscores the importance of screening mtDNA-encoded respiratory chain structural genes, including ND3, in pediatric patients with unexplained encephalopathies.
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