Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews
- 1 December 2001
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 69 (6) , 1218-1224
- https://doi.org/10.1086/324651
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic AciduriaJournal of Child Neurology, 2001
- Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth SyndromeBiochemical and Biophysical Research Communications, 2000
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophyNature Genetics, 2000
- Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groupsEuropean Journal of Human Genetics, 2000
- A novel X-linked gene, G4.5. is responsible for Barth syndromeNature Genetics, 1996
- Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Journal of Medical Genetics, 1995
- Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduriaEuropean Journal of Pediatrics, 1993
- Multiple syndromes of 3-methylglutaconic aciduriaPediatric Neurology, 1993
- 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsThe Journal of Pediatrics, 1992
- A conserved tripeptide sorts proteins to peroxisomes.The Journal of cell biology, 1989