Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales TRNG-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.

Nishigaki Y et al. (2002) Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).

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2.

Tomari Y et al. (2003) Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation.

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3.

et al. (1980) Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies.

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4.

Merante F et al. (1994) Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

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5.

Santorelli FM et al. (1996) Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.

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6.

Graham BH et al. (1997) A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator.

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