Infectious stress triggers a POLG-related mitochondrial disease.

doi:10.1007/s10048-019-00593-2

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Article

Infectious stress triggers a POLG-related mitochondrial disease.

Neurogenetics - 1 Jan 2020

Gaudó Paula, Emperador Sonia, Garrido-Pérez Nuria, Ruiz-Pesini Eduardo, Yubero Delia, García-Cazorla Angels, Artuch Rafael, Montoya Julio, Bayona-Bafaluy María Pilar

Abstract excerpt

A 3-year-old girl presented with severe epilepsy in the context of Borrelia infection. After ceftriaxone/lidocaine administration, she showed secondarily generalized focal crises that led to neurological and motor sequelae. Genetic studies identified in the patient two heterozygous POLG mutations (c.2591A>G; p.Asn864Ser and c.3649G>C; p.Ala1217Pro). Through analysis of POLG activity in cultured fibroblasts, we...

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PMID: 31655921
DOI: 10.1007/s10048-019-00593-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.