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

Gutiérrez Cortés N et al. (2012) Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

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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.

Corona P et al. (2002) Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.

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4.

Taylor RW et al. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

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5.

Limongelli A et al. (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.

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6.

Levinger L et al. (2004) Mitochondrial tRNA 3' end metabolism and human disease.

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7.

Wilson FH et al. (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

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8.

Taniike M et al. (1992) Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.

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9.

Tanaka M et al. (1990) Mitochondrial mutation in fatal infantile cardiomyopathy.

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10.

Merante F et al. (1996) An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.

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11.

Degoul F et al. (1998) Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene.

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12.

NCBI article

NCBI 4565 external link
13.

OMIM.ORG article

Omim 590045 external link
Update: Aug. 14, 2020
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