Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales ATP8-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Referenzen:

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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