Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales TRNF-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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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