Leigh disease associated with a novel mitochondrial DNA ND5 mutation
- 1 February 2002
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (2) , 141-144
- https://doi.org/10.1038/sj.ejhg.5200773
Abstract
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.Keywords
This publication has 11 references indexed in Scilit:
- The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutationsNucleic Acids Research, 2001
- Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 geneAnnals of Neurology, 2001
- Tight Control of Respiration by NADH Dehydrogenase ND5 Subunit Gene Expression in Mouse MitochondriaMolecular and Cellular Biology, 2000
- The Protein Information Resource (PIR)Nucleic Acids Research, 2000
- The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELASAnnals of Neurology, 1999
- Respiratory chain complex I deficiencyNeurology, 1999
- Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh SyndromeAmerican Journal of Human Genetics, 1998
- A mitochondrial DNA tRNA Val point mutation associated with adult-onset Leigh syndromeNeurology, 1997
- Deficiency of respiratory chain complex I is a common cause of leigh diseaseAnnals of Neurology, 1996
- A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding geneNeuromuscular Disorders, 1995