(Q34174847)

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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

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Europe PubMed Central

PubMed publication ID

31 July 2017

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Christine Van Broeckhoven

13

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Van Broeckhoven C

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PubMed publication ID

31 July 2017

author name string

Van Goethem G

1

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31 July 2017

Martin JJ

2

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31 July 2017

Dermaut B

3

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31 July 2017

Löfgren A

4

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31 July 2017

Wibail A

5

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31 July 2017

Ververken D

6

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31 July 2017

Tack P

7

1 reference

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31 July 2017

Dehaene I

8

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31 July 2017

Van Zandijcke M

9

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31 July 2017

Moonen M

10

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31 July 2017

Ceuterick C

11

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31 July 2017

De Jonghe P

12

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31 July 2017

publication date

1 February 2003

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31 July 2017

Neuromuscular Disorders

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31 July 2017

13

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31 July 2017

2

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31 July 2017

133-142

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Europe PubMed Central

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31 July 2017

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

1 reference

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Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

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7 January 2021

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Mitochondrial DNA deletions in inherited recurrent myoglobinuria

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

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Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA

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Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

1 reference

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Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

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7 January 2021

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

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An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

1 reference

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Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

1 reference

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Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

1 reference

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Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

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Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

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Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder

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7 January 2021

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Multiple mtDNA deletions with features of MNGIE.

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7 January 2021

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Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease

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7 January 2021

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Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

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

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Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

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7 January 2021

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Replication of animal mitochondrial DNA.

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Characterization of a catalytically slow AP lyase activity in DNA polymerase gamma and other family A DNA polymerases

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7 January 2021

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Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

1 reference

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7 January 2021

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Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

1 reference

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7 January 2021

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Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

1 reference

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7 January 2021

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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900216-X

7 January 2021

based on heuristic

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Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

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7 January 2021

based on heuristic

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Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

1 reference

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7 January 2021

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Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

1 reference

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7 January 2021

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Identifiers

10.1016/S0960-8966(02)00216-X

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Europe PubMed Central

PubMed publication ID

31 July 2017

release_ljjqprfv5ncv5boyqmxhqejg2u

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https://api.fatcat.wiki/v0/release/ljjqprfv5ncv5boyqmxhqejg2u

24 November 2022

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mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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