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Article

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology - 1 Mar 2026

Capece Giuliana, Caumo Luca, Volta Sara, Riguzzi Pietro, Sogus Elena, Petrosino Angela, Vianello Sara, Sabbatini Daniele, Salviati Leonardo, Manara Renzo, Viscomi Carlo, Sorarù Gianni, Bello Luca, Pegoraro Elena

Abstract excerpt

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than TYMP. METHODS: We describe two identical twins who exhibited delayed...

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Share to DNA Polymerase gamma
Share to POLG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41841518
DOI: 10.1111/ene.70554
PMCID: PMC13093735

Genes

POLG
TYMP

Variants

Provenance

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

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