Mitochondrial TRNA gene
The mitochondrial gene MT-TA encodes a transport RNA (tRNA) for alanine (A). The gene is encoded by nucleotides 5587-5655. Mutations cause myopathy. 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. |
Horváth R et al. (2003) A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.
|
| 2. |
Swalwell H et al. (2006) Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
|
| 3. |
NCBI article
NCBI 4553
|
| 4. |
OMIM.ORG article
Omim 590000
|
| 5. |
Wikipedia article
Wikipedia EN (Transfer_RNA)
|
Update: June 23, 2025