(Q33625204)

28 July 2017

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'. (English)

1 reference

28 July 2017

0 references

1 reference

3

Sweeney MG

1 reference

28 July 2017

Fryer A

1

1 reference

28 July 2017

Appleton R

series ordinal

2

1 reference

28 July 2017

Rosenbloom L

series ordinal

4

1 reference

28 July 2017

Harding AE

series ordinal

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1994

1 reference

Archives of Disease in Childhood

28 July 2017

1 reference

28 July 2017

71

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28 July 2017

5

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28 July 2017

419-422

1 reference

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1030055

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1030055

Prenatal diagnosis of mitochondrial DNA8993 T----G disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1030055

Mitochondrial DNA mutation and Leigh's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1030055

Maternally inherited Leigh syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1030055

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

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

12 December 2020

Heteroplasmy in Leber's hereditary optic neuropathy

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

Identifiers

DOI

10.1136/ADC.71.5.419

1 reference

28 July 2017

1 reference

28 July 2017

1 reference