(Q46589787)

23 December 2017

title

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle (English)

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23 December 2017

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9

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author name string

Ariel Brautbar

1

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23 December 2017

Jing Wang

2

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23 December 2017

Jose E Abdenur

3

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23 December 2017

Richard C Chang

4

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23 December 2017

Janet A Thomas

5

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23 December 2017

Theresa A Grebe

6

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23 December 2017

Cynthia Lim

7

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23 December 2017

Shao-Wen Weng

8

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23 December 2017

Lee-Jun Wong

10

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23 December 2017

publication date

20 May 2008

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23 December 2017

Molecular Genetics and Metabolism

published in

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23 December 2017

volume

94

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23 December 2017

issue

4

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23 December 2017

page(s)

485-490

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23 December 2017

Atypical presentations of leigh syndrome: a case series and review

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Clinical and molecular findings in children with complex I deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

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Molecular analysis for mitochondrial DNA disorders

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Mitochondrial DNA analysis in clinical laboratory diagnostics

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Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.004

Clinical manifestations of mitochondrial DNA depletion

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Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

7 January 2021

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Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?

7 January 2021

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Diagnostic criteria for respiratory chain disorders in adults and children.

7 January 2021

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A motif for quinone binding sites in respiratory and photosynthetic systems

7 January 2021

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Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II

7 January 2021

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10.1016/J.YMGME.2008.04.004

7 January 2021

Identifiers

DOI

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23 December 2017

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23 December 2017