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

Nishigaki Y et al. (2002) Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).

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2.

Tomari Y et al. (2003) Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation.

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3.

None (1980) Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies.

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4.

Merante F et al. (1994) Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

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5.

Santorelli FM et al. (1996) Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.

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6.

Graham BH et al. (1997) A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator.

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7.

NCBI article

NCBI 4563 external link
8.

OMIM.ORG article

Omim 590035 external link
Update: Aug. 14, 2020
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