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Article

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

Medicina clinica - 2 Oct 2010

Posada Ignacio J, Gallardo María Esther, Domínguez Cristina, Rivera Henry, Cabello Ana, Arenas Joaquín, Martín Miguel A, Garesse Rafael, Bornstein Belén

Abstract excerpt

BACKGROUND AND OBJECTIVE: A broad spectrum of clinical disorders is produced by mutations in the DNA polymerase gamma mitochondrial (POLG) gene which are associated with altered mitochondrial DNA (mtDNA) integrity. The majority of disorders characterized by multiple mtDNA deletions present with progressive external ophthalmoplegia, though this feature is not usually found in syndromes caused by mtDNA depletion....

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Source

Identifiers

PMID: 20576279
DOI: 10.1016/j.medcli.2010.03.031

Genes

POLG

Provenance

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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[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].PMID 20576279Read ↗

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