Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Mitochondriales TRNG-Gen

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

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

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

[^]
2.

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

[^]
3.

None (1980) Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies.

[^]
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.

[^]
5.

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

[^]
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.

[^]
7.

NCBI article

NCBI 4563 [^]
8.

OMIM.ORG article

Omim 590035 [^]
Update: 9. Mai 2019