The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders (Q37766019)

22 August 2017

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title

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders (English)

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22 August 2017

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2

Robert K Naviaux

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22 August 2017

Bruce H Cohen

1

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22 August 2017

language of work or name

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15 June 2010

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22 August 2017

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22 August 2017

volume

51

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22 August 2017

issue

4

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22 August 2017

page(s)

364-373

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Diffuse cerebral degeneration in infancy (Alpers' disease).

22 August 2017

cites work

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

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

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Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication

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7 January 2021

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Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

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Inherited mitochondrial diseases of DNA replication

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Disorders associated with depletion of mitochondrial DNA

7 January 2021

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Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

7 January 2021

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

7 January 2021

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Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

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7 January 2021

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POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

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Molecular diagnosis of Alpers syndrome.

7 January 2021

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7 January 2021

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Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity

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POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

7 January 2021

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

7 January 2021

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POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

7 January 2021

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Respiratory chain defects may present only with hypoglycemia

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Patient homozygous for a recessive POLG mutation presents with features of MERRF

7 January 2021

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

7 January 2021

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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

7 January 2021

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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

7 January 2021

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Effect of L-carnitine treatment for valproate-induced hepatotoxicity

7 January 2021

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Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

7 January 2021

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A modern approach to the treatment of mitochondrial disease

7 January 2021

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Treatment of mitochondrial cytopathies

7 January 2021

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Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy

7 January 2021

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7 January 2021

Identifiers

DOI

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22 August 2017

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