Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Annals of neurology - 1 May 2004

Naviaux Robert K, Nguyen Khue V

Abstract excerpt

Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease. In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool
Share to Diffuse Cerebral Sclerosis of Schilder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Directed DNA Polymerase

Share to DNA, Mitochondrial

Share to DNA Mutational Analysis

Share to DNA Polymerase gamma

Share to Infant

Source

Identifiers

PMID: 15122711
DOI: 10.1002/ana.20079

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.PMID 15122711Read ↗

Molecular diagnosis of Alpers syndrome.Semantic proximity Read ↗

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenSemantic proximity Read ↗

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Semantic proximity Read ↗

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.Semantic proximity Read ↗

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.Semantic proximity Read ↗

Consequences of mutations in human DNA polymerase gamma.Semantic proximity Read ↗

Mitochondrial DNA polymerase-gamma and human disease.Semantic proximity Read ↗

Polymerase gamma disease through the ages.Semantic proximity Read ↗

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.Semantic proximity Read ↗

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.Semantic proximity Read ↗

The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.Semantic proximity Read ↗

POLG1 mutations associated with progressive encephalopathy in childhood.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.