Risk of developing a mitochondrial DNA deletion disorder (Q57390264)

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title

Risk of developing a mitochondrial DNA deletion disorder (English)

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Rita Horvath

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David Thorburn

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Laurence Bindoff

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Joanna Poulton

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Robert William Taylor

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Robert W Taylor

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Douglass Matthew Turnbull

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Douglass M Turnbull

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Patrick F Chinnery

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Massimo Zeviani

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Sara Shanske

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author name string

Eric A Schon

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Caterina Mariotti

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Fanco Carrara

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Anne Lombes

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Pascal Laforet

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Michaela Jaksch

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Marcus Deschauer

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Salvatore DiMauro

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Helène Ogier

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John N S Matthews

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language of work or name

English

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publication date

1 August 2004

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volume

364

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issue

9434

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page(s)

592-596

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The epidemiology of pathogenic mitochondrial DNA mutations

31 December 2019

cites work

1 reference

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.

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Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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7 January 2021

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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7 January 2021

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

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7 January 2021

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

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Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

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7 January 2021

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

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7 January 2021

Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic?

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7 January 2021

Evidence from human oocytes for a genetic bottleneck in an mtDNA disease

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Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

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Prenatal chromosome analysis and its impact on the birth incidence of chromosome disorders

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Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level

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7 January 2021

Mitochondrial DNA mutations and pathogenesis

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7 January 2021

Mitochondrial DNA deletion in "identical" twin brothers

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7 January 2021

Paternal inheritance of mitochondrial DNA

1 reference

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7 January 2021

Mitochondrial DNA deletion in human oocytes and embryos

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7 January 2021

Mitochondrial DNA rearrangements in human oocytes and embryos

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7 January 2021

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

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7 January 2021

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands

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7 January 2021

Mitochondrial DNA: does more lead to less?

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7 January 2021

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

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7 January 2021

10.1016/S0140-6736(04)16851-7

Identifiers

DOI

1 reference

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31 December 2019

1 reference