Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis
- 1 March 2006
- journal article
- case report
- Published by Springer Science and Business Media LLC in Pediatric Research
- Vol. 59 (3), 440-444
- https://doi.org/10.1203/01.pdr.0000198771.78290.c4
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Mitochondrial DNA mutations in human diseaseNature Reviews Genetics, 2005
- NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyJCI Insight, 2004
- Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyJournal of Medical Genetics, 2003
- Mitochondrial Respiratory-Chain DiseasesNew England Journal of Medicine, 2003
- The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyJournal of Medical Genetics, 2003
- Leigh disease associated with a novel mitochondrial DNA ND5 mutationEuropean Journal of Human Genetics, 2002
- Nuclear genetic defects of oxidative phosphorylationHuman Molecular Genetics, 2001
- Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated familiesAnnals of Neurology, 2000
- Isolated complex I deficiency in children: Clinical, biochemical and genetic aspectsHuman Mutation, 2000
- Respiratory chain complex I deficiencyNeurology, 1999