Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
- 1 October 2007
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 81 (4) , 857-862
- https://doi.org/10.1086/521227
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationNature Genetics, 2007
- Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTuAmerican Journal of Human Genetics, 2007
- Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTsAmerican Journal of Human Genetics, 2006
- Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variantsNature Genetics, 2006
- Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive DiseaseAmerican Journal of Human Genetics, 2006
- Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?American Journal of Medical Genetics Part A, 2006
- Toward the Full Set of Human Mitochondrial Aminoacyl-tRNA Synthetases: Characterization of AspRS and TyrRSBiochemistry, 2005
- Mitochondrial tRNA import: are there distinct mechanisms?Trends in Cell Biology, 2000
- Pontocerebellar Hypoplasia Associated with Respiratory-Chain DefectsNeuropediatrics, 1999
- Mitochondrial and Cytoplasmic Isoleucyl-, Glutamyl-and Arginyl-tRNA Synthetases of Yeast are Encoded by Separate GenesEuropean Journal of Biochemistry, 1995