Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNY 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.

Pulkes T et al. (2000) A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.

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2.

Sahashi K et al. (2001) Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.

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3.

Raffelsberger T et al. (2001) CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.

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4.

Scaglia F et al. (2003) Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

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5.

NCBI article

NCBI 4579 [^]
6.

OMIM.ORG article

Omim 590100 [^]
Update: April 29, 2019