Mitochondrial TRNM gene
The mitochondrial gene MT-TM encodes a transport RNA (tRNA) for methionine, including N-formyl-methionine (fMet). 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. |
Jones CN et al. (2008) A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation.
|
2. |
Vissing J et al. (1998) A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.
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3. |
NCBI article
NCBI 4569
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4. |
OMIM.ORG article
Omim 590065
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Update: Aug. 14, 2020