S-Space College of Medicine/School of Medicine (의과대학/대학원) Pediatrics (소아과학전공) Journal Papers (저널논문_소아과학전공)
Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies
Cited 24 time in Web of Science Cited 25 time in Scopus
- Issue Date
- SAGE PUBLICATIONS INC
- JOURNAL OF CHILD NEUROLOGY; Vol.24 7; 828-832
- childhood mitochondrial encephalopathy ; Leigh syndrome ; respiratory chain ; G13513A ; T10191C
- An increasing number of reports on mitochondrial DNA coding regions` Mutations, especially in mitochondrial DNA-encoded NADH dehydrogenase (ND) Subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra.
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