Mitochondriales TRNW-Gen
Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
| Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
[^]
|
| 2. |
Tulinius M et al. (2003) Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.
[^]
|
| 3. |
Maniura-Weber K et al. (2004) A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
[^]
|
| 4. |
Sacconi S et al. (2008) A functionally dominant mitochondrial DNA mutation.
[^]
|
| 5. |
Nelson I et al. (1995) A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
[^]
|
| 6. |
Santorelli FM et al. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
[^]
|
| 7. |
Silvestri G et al. (1998) A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.
[^]
|
Update: 26. September 2018
