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.
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2. |
Swalwell H et al. (2006) Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
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3. |
NCBI article
NCBI 4553
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4. |
OMIM.ORG article
Omim 590000
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5. |
Wikipedia article
Wikipedia EN (Transfer_RNA)
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Update: Aug. 14, 2020