(Q47995917)

English

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.

scientific article published in May 1998

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scholarly article

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12 November 2019

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation (English)

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12 November 2019

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based on heuristic

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overlap syndrome

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based on heuristic

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6

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12 November 2019

author name string

E Wilichowski

1

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12 November 2019

G C Korenke

2

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12 November 2019

W Ruitenbeek

3

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12 November 2019

L De Meirleir

4

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12 November 2019

A Hagendorff

5

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12 November 2019

W Lissens

7

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12 November 2019

F Hanefeld

8

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12 November 2019

publication date

1 May 1998

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12 November 2019

number of pages

8

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Journal of the Neurological Sciences

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12 November 2019

157

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12 November 2019

2

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12 November 2019

206-213

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12 November 2019

A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.

1 reference

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7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Pyruvate dehydrogenase E1 alpha deficiency

1 reference

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7 January 2021

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

1 reference

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7 January 2021

Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes

1 reference

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7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

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7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

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7 January 2021

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

1 reference

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7 January 2021

Mitochondrial myopathies

1 reference

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7 January 2021

Deletion screening of mitochondrial DNA via multiprimer DNA amplification

1 reference

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7 January 2021

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

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7 January 2021

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

1 reference

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7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

1 reference

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7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

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7 January 2021

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

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7 January 2021

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900068-9

7 January 2021

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900068-9

7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts

1 reference

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7 January 2021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

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7 January 2021

Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide.

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7 January 2021

Mitochondrial leucine tRNA mutation in neurological diseases

1 reference

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7 January 2021

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900068-9

7 January 2021

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency

1 reference

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7 January 2021

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

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7 January 2021

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

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7 January 2021

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency

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7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

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7 January 2021

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

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7 January 2021

1 reference

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7 January 2021

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

1 reference

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7 January 2021

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain

1 reference

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7 January 2021

The protein import machinery of mitochondria

1 reference

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7 January 2021

Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

1 reference

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7 January 2021

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death

1 reference

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7 January 2021

Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies

1 reference

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7 January 2021

Genetics of mitochondrial biogenesis

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Protein import into mitochondria: the requirement for external ATP is precursor-specific whereas intramitochondrial ATP is universally needed for translocation into the matrix

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Diseases resulting from mitochondrial DNA point mutations

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Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.

1 reference

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7 January 2021

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

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Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay

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Identifiers

10.1016/S0022-510X(98)00068-9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9619647%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9619647%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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