Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNP 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.

Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.

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2.

Blakely EL et al. (2009) A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

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3.

Moraes CT et al. (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease.

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4.

Orphanet article

Orphanet ID 205934 [^]
5.

NCBI article

NCBI 4571 [^]
6.

OMIM.ORG article

Omim 590075 [^]
Update: April 29, 2019