Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales TRNW-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.

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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