Mitochondriales TRNW-Gen
Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Diagnostik:
Krankheiten:
Referenzen:
| 1. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
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| 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.
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| 3. |
Maniura-Weber K et al. (2004) A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
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| 4. |
Sacconi S et al. (2008) A functionally dominant mitochondrial DNA mutation.
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| 5. |
Nelson I et al. (1995) A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
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| 6. |
Santorelli FM et al. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
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| 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.
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Update: 26. September 2018
