Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation (Q34118230)

31 July 2017

title

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation (English)

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31 July 2017

main subject

septo-optic dysplasia

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Markus Schuelke

1

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31 July 2017

Heiko Krude

2

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Barbara Finckh

3

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Ertan Mayatepek

4

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Antoon Janssen

5

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Michael Schmelz

6

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Friedrich Trefz

7

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Frans Trijbels

8

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Jan Smeitink

9

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language of work or name

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1 March 2002

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31 July 2017

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31 July 2017

volume

51

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issue

3

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31 July 2017

page(s)

388-392

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

31 July 2017

cites work

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Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

21 January 2018

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The clinical manifestation of the kwashiorkor syndrome is related to increased lipid peroxidation

21 January 2018

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Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency

21 January 2018

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Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

21 January 2018

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Leukotrienes: biosynthesis, metabolism, and pathophysiologic significance

21 January 2018

1 reference

Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria

21 January 2018

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Antimycin A resistance in a mutant Leishmania tarentolae strain is correlated to a point mutation in the mitochondrial apocytochrome b gene.

21 January 2018

1 reference

Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome)

21 January 2018

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 January 2018

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Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

21 January 2018

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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

21 January 2018

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Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency

21 January 2018

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Cerebellar hypoplasia in respiratory chain dysfunction

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10151

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31 July 2017

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