Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales CYTB-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.

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2.

Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

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3.

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4.

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5.

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6.

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7.

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8.

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9.

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10.

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11.

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12.

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13.

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14.

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15.

Andreu AL et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.

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16.

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17.

Andreu AL et al. (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.

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18.

Keightley JA et al. (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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27.

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28.

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29.

Linke P et al. (1986) Reconstitution of ubiquinol-cytochrome-c reductase from Neurospora mitochondria with regard to subunits I and II.

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30.

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31.

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32.

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33.

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34.

Oudshoorn P et al. (1987) Subunit II of yeast QH2:cytochrome-c oxidoreductase. Nucleotide sequence of the gene and features of the protein.

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35.

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36.

Spiro AJ et al. (1970) A cytochrome-related inherited disorder of the nervous system and muscle.

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37.

Kennaway NG et al. (1984) Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.

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38.

Hayes DJ et al. (1984) A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain.

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39.

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40.

Darley-Usmar VM et al. (1983) Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis.

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41.

Saraste M et al. (1984) Location of haem-binding sites in the mitochondrial cytochrome b.

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42.

Morgan-Hughes JA et al. (1982) Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

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43.

Rieske JS et al. (1976) Composition, structure, and function of complex III of the respiratory chain.

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44.

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45.

Bouzidi MF et al. () Decreased expression of ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance.

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46.

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47.

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48.

Esposti MD et al. (1993) Mitochondrial cytochrome b: evolution and structure of the protein.

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49.

Mackey DA et al. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

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50.

Dumoulin R et al. (1996) A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.

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51.

Andreu AL et al. (1998) Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.

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52.

Andreu AL et al. (1999) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.

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53.

De Coo IF et al. (1999) A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.

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