(Q30781072)

26 June 2017

title

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review (English)

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26 June 2017

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Chang-Yong Tsao

1

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26 June 2017

Gail Herman

2

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26 June 2017

Daniel R Boué

3

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26 June 2017

Thomas W Prior

4

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26 June 2017

Warren D Lo

5

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26 June 2017

Joan F Atkin

6

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26 June 2017

Jerome Rusin

7

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26 June 2017

publication date

1 January 2003

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Journal of Child Neurology

26 June 2017

published in

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26 June 2017

volume

18

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26 June 2017

issue

1

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26 June 2017

page(s)

62-64

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describes a project that uses

26 June 2017

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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https://api.crossref.org/works/10.1177%2F08830738030180011401

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

Genetic heterogeneity in Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

Leigh syndrome in an infant resulting from mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180011401

10.1177/08830738030180011401

21 January 2018

Identifiers

DOI

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