Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mitochondriales TRNF-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.

Goto Y et al. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

external link
2.

Pavlakis SG et al. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

external link
3.

Tzen CY et al. (2001) Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.

external link
4.

Shapira Y et al. (1975) Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.

external link
5.

Mancuso M et al. (2004) A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.

external link
6.

Deschauer M et al. (2006) Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.

external link
7.

Ling J et al. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

external link
8.

Zsurka G et al. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

external link
9.

Young TM et al. (2010) Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

external link
10.

Hanna MG et al. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

external link
11.

NCBI article

NCBI 4558 external link
12.

OMIM.ORG article

Omim 590070 external link
13.

Orphanet article

Orphanet ID 167909 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz