Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene
- 26 August 2005
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 334 (2) , 582-587
- https://doi.org/10.1016/j.bbrc.2005.06.134
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early LethalityPediatric Research, 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
- Isolated complex I deficiency in children: Clinical, biochemical and genetic aspectsHuman Mutation, 2000
- Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNANeurology, 1997
- Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)American Journal of Medical Genetics, 1994
- SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANTJournal of Neurology, Neurosurgery & Psychiatry, 1951