Mitochondrial TRNR gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
None (2001) Modifying with mitochondria.
|
2. |
Johnson KR et al. (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
|
3. |
Uusimaa J et al. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
|
4. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
|
5. |
NCBI article
NCBI 4573
|
6. |
OMIM.ORG article
Omim 590005
|
Update: Aug. 14, 2020