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Article

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Brain : a journal of neurology - 1 Apr 2005

Ferrari Gianfrancesco, Lamantea Eleonora, Donati Alice, Filosto Massimiliano, Briem Egill, Carrara Franco, Parini Rossella, Simonati Alessandro, Santer René, Zeviani Massimo

Abstract excerpt

We studied nine infant patients with a combination of progressive neurological and hepatic failure. Eight children, including two sibling pairs and four singletons, were affected by Alpers' hepatopathic poliodystrophy. A ninth baby patient suffered of a severe floppy infant syndrome associated with liver failure. Analysis of POLG1, the gene encoding the catalytic subunit of mitochondrial DNA polymerase, revealed...

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Share to DNA, Mitochondrial
Share to Diffuse Cerebral Sclerosis of Schilder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to DNA-Directed DNA Polymerase

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Source

Identifiers

PMID: 15689359
DOI: 10.1093/brain/awh410

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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