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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
Clinic Method Massive parallel sequencing
Turnaround 25 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.

external link
2.

Vissing J et al. (1998) A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.

external link
3.

NCBI article

NCBI 4569 external link
4.

OMIM.ORG article

Omim 590065 external link
Update: Aug. 14, 2020
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