Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Mitochondrial TRNA 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
Clinic Method Massive parallel sequencing
Turnaround 25 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.

external link
2.

Swalwell H et al. (2006) Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

external link
3.

NCBI article

NCBI 4553 external link
4.

OMIM.ORG article

Omim 590000 external link
5.

Wikipedia article

Wikipedia EN (Transfer_RNA) external link
Update: Aug. 14, 2020
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