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Article

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.

Brain : a journal of neurology - 1 May 2010

Tzoulis Charalampos, Neckelmann Gesche, Mørk Sverre J, Engelsen Bernt E, Viscomi Carlo, Moen Gunnar, Ersland Lars, Zeviani Massimo, Bindoff Laurence A

Abstract excerpt

Mutations in the catalytic subunit of the mitochondrial DNA-polymerase gamma cause a wide spectrum of clinical disease ranging from infantile hepato-encephalopathy to juvenile/adult-onset spinocerebellar ataxia and late onset progressive external ophthalmoplegia. Several of these syndromes are associated with an encephalopathy that characteristically shows episodes of rapid neurological deterioration and the...

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Identifiers

PMID: 20400524
DOI: 10.1093/brain/awq067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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