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

Mitochondrial TRNW 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.

Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

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2.

Tulinius M et al. (2003) Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.

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3.

Maniura-Weber K et al. (2004) A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

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4.

Sacconi S et al. (2008) A functionally dominant mitochondrial DNA mutation.

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5.

Nelson I et al. (1995) A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.

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6.

Santorelli FM et al. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

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7.

Silvestri G et al. (1998) A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.

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8.

NCBI article

NCBI 4578 external link
9.

OMIM.ORG article

Omim 590095 external link
10.

Orphanet article

Orphanet ID 160307 external link
Update: Aug. 14, 2020
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