Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Mitochondrial TRNT 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.

Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.

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2.

Brown MD et al. (1992) Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.

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3.

Yoon KL et al. (1991) Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.

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4.

Jia Z et al. (2013) Coronary heart disease is associated with a mutation in mitochondrial tRNA.

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5.

NCBI article

NCBI 4576 external link
6.

OMIM.ORG article

Omim 590090 external link
7.

Orphanet article

Orphanet ID 328936 external link
Update: Aug. 14, 2020
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