(Q28139048)

1

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T Lerman-Sagie

2

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O N Elpeleg

3

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A Shaag

4

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S Merin

British Journal of Ophthalmology

5

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language of work or name

English

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publication date

February 1999

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published in

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volume

83

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issue

2

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page(s)

190-3

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cites work

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

Clinical subtypes of cone-rod dystrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722923

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

2 June 2018

1 reference

12 December 2020

Electrophysiologic tests in assessment of senile macular degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

1 reference

12 December 2020

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

1 reference

12 December 2020

Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes

1 reference

12 December 2020

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

1 reference

12 December 2020

A maculopathy associated with the 15257 mitochondrial DNA mutation

1 reference

12 December 2020

The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study

1 reference

12 December 2020

Variation in retinal changes and muscle pathology in mitochondriopathies

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