(Q35260216)

7 August 2017

Clinical and laboratory findings in referrals for mitochondrial DNA analysis. (English)

1 reference

nucleic acid sequence analysis

7 August 2017

0 references

1 reference

P J Lamont

1

1 reference

7 August 2017

R Surtees

2

1 reference

7 August 2017

C E Woodward

3

1 reference

7 August 2017

J V Leonard

4

1 reference

7 August 2017

N W Wood

5

1 reference

7 August 2017

A E Harding

6

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 July 1998

1 reference

Archives of Disease in Childhood

7 August 2017

1 reference

7 August 2017

79

1 reference

7 August 2017

1

1 reference

7 August 2017

22-27

1 reference

Pearson's syndrome without marrow involvement

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

The clinical features of mitochondrial myopathy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Leigh disease (subacute necrotizing encephalomyelopathy): CT and MR in five cases.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

MR of Leigh's disease (subacute necrotizing encephalomyelopathy).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Maternally inherited Leigh syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717633

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

15 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

12 December 2020

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

12 December 2020

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

1 reference

12 December 2020

Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.79.1.22

1 reference

7 August 2017

1 reference

7 August 2017

1 reference