Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease (Q35196436)

7 August 2017

title

Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease (English)

1 reference

7 August 2017

1 reference

D. M. Slipetz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

8 December 2022

J. R. Aprille

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

8 December 2022

P. R. Goodyer

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

8 December 2022

R. Rozen

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

8 December 2022

language of work or name

English

0 references

publication date

1 March 1991

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1847791/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1847791/pdf/?tool=EBI

8 December 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

https://europepmc.org/articles/PMC1682975

8 December 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

https://europepmc.org/articles/PMC1682975?pdf=render

8 December 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1847791

American Journal of Human Genetics

8 December 2022

published in

1 reference

7 August 2017

volume

48

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7 August 2017

issue

3

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7 August 2017

page(s)

502-510

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Inherited lactic acidosis: correction of the defect in cultured fibroblasts

7 August 2017

cites work

1 reference

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Mitochondrial myopathies. Clinical, morphological and biochemical aspects

13 July 2018

1 reference

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Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Arrangement of proteins in the mitochondrial inner membrane

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

The mitochondrial electron transport and oxidative phosphorylation system

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682975

26 September 2018

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

1 reference

12 December 2020

Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria

1 reference

12 December 2020

Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphologic, and biochemical studies

1 reference

12 December 2020

Identifiers

PMC publication ID

1682975

1 reference

7 August 2017

1 reference