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

Mitochondrial TRNF 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.

Goto Y et al. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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2.

Pavlakis SG et al. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

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3.

Tzen CY et al. (2001) Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.

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4.

Shapira Y et al. (1975) Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.

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5.

Mancuso M et al. (2004) A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

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6.

Deschauer M et al. (2006) Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.

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7.

Ling J et al. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

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8.

Zsurka G et al. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

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9.

Young TM et al. (2010) Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

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10.

Hanna MG et al. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

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11.

NCBI article

NCBI 4558 external link
12.

OMIM.ORG article

Omim 590070 external link
13.

Orphanet article

Orphanet ID 167909 external link
Update: Aug. 14, 2020
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