Mitochondrial TRNC 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. |
McFarland R et al. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia.
|
2. |
Manfredi G et al. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
|
3. |
Santorelli FM et al. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
|
4. |
NCBI article
NCBI 4511
|
5. |
OMIM.ORG article
Omim 590020
|
Update: Aug. 14, 2020