Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Mitochondrial ATP8 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.

Ware SM et al. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

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2.

Galimberti CA et al. (2006) Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.

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3.

Jonckheere AI et al. (2008) A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

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4.

Yu X et al. (2009) The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse.

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5.

Lam CW et al. (1997) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.

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6.

NCBI article

NCBI 4509 external link
7.

OMIM.ORG article

Omim 516070 external link
8.

Orphanet article

Orphanet ID 159773 external link
9.

Wikipedia article

Wikipedia EN (MT-ATP8) external link
Update: Aug. 14, 2020
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