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Article

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Archives of neurology - 1 Feb 2010

Kurt Bulent, Jaeken Jaak, Van Hove Johan, Lagae Lieven, Löfgren Ann, Everman David B, Jayakar Parul, Naini Ali, Wierenga Klaas J, Van Goethem Gert, Copeland William C, DiMauro Salvatore

Abstract excerpt

OBJECTIVE: To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children. DESIGN: Genotype-phenotype correlation. SETTING: Tertiary care universities. PATIENTS: Four children...

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Identifiers

PMID: 20142534
DOI: 10.1001/archneurol.2009.332
PMCID: PMC3826985

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20142534-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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