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Article

POLG1 mutations associated with progressive encephalopathy in childhood.

Journal of neuropathology and experimental neurology - 1 Aug 2006

Kollberg Gittan, Moslemi Ali-Reza, Darin Niklas, Nennesmo Inger, Bjarnadottir Ingibjörg, Uvebrant Paul, Holme Elisabeth, Melberg Atle, Tulinius Már, Oldfors Anders

Abstract excerpt

We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families. The clinical features in 6 of the children included psychomotor regression, refractory seizur...

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Source

Identifiers

PMID: 16896309
DOI: 10.1097/01.jnen.0000229987.17548.6e

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16896309-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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