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

Mitochondrial TRNL2 gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.


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:



Tessa A et al. (1999) MtDNA-related idiopathic dilated cardiomyopathy.

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Grasso M et al. (2001) The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.

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Fu K et al. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

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Weber K et al. (1997) A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.

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NCBI article

NCBI 4568 external link

OMIM.ORG article

Omim 590055 external link

Orphanet article

Orphanet ID 183924 external link
Update: Aug. 14, 2020
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