(Q48962180)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061567%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues (English)

1 reference

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1 November 2019

1

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1 November 2019

author name string

D François

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061567%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Diry

3

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1 November 2019

G Ponsot

4

1 reference

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1 November 2019

I Desguerre

5

1 reference

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1 November 2019

B Héron

6

1 reference

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1 November 2019

C Marsac

7

1 reference

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1 November 2019

M L Moutard

8

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1 November 2019

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061567%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 November 2019

published in

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1 November 2019

volume

20

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1 November 2019

issue

1

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1 November 2019

page(s)

49-53

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https://scigraph.springernature.com/pub.10.1023/a:1005357506614

1 November 2019

exact match

0 references

cites work

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

12 December 2020

Length heteroplasmy in the first hypervariable segment of the human mtDNA control region

1 reference

12 December 2020

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

1 reference

12 December 2020

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation

1 reference

12 December 2020

Maternally inherited Leigh syndrome.

1 reference

12 December 2020

Replacement of bovine mitochondrial DNA by a sequence variant within one generation

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

1 reference

12 December 2020

Transmission of mtDNA: cracks in the bottleneck

1 reference

12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

1 reference

12 December 2020

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

1 reference

12 December 2020

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

1 reference

12 December 2020

Rapid segregation of heteroplasmic bovine mitochondria

1 reference

12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

12 December 2020

Rearranged mitochondrial genomes are present in human oocytes

1 reference

12 December 2020

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

12 December 2020

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

1 reference

12 December 2020