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Article

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.

Journal of neurology - 1 Sept 2014

Prasun Pankaj, Koeberl Dwight D

Abstract excerpt

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Topics

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Share to Brain
Share to DNA-Directed DNA Polymerase
Share to DNA Polymerase gamma
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mitochondrial Encephalomyopathies

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Source

Identifiers

PMID: 25022940
DOI: 10.1007/s00415-014-7428-2

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.PMID 25022940Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Semantic proximity Read ↗

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.Semantic proximity Read ↗

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.Semantic proximity Read ↗

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

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.Semantic proximity Read ↗

Clinical and molecular features of POLG-related mitochondrial disease.Semantic proximity Read ↗

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Semantic proximity Read ↗

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.Semantic proximity Read ↗

A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders.Semantic proximity Read ↗

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Semantic proximity Read ↗

[Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].Semantic proximity Read ↗

Clinical and molecular spectrum associated with Polymerase-γ related disorders.Semantic proximity Read ↗

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