Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial TRNM 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.

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
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues