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Article

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

Clinical neurology and neurosurgery - 1 Oct 2009

Laforce Robert, Valdmanis Paul N, Dupré Nicolas, Rouleau Guy A, Turgeon Alexis F, Savard Martin

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder characterized by gastrointestinal, extraocular muscle, peripheral nerve, and cerebral white matter involvement. Mutations in the nuclear gene TYMP encoding for thymidine phosphorylase (TP) cause loss of TP activity, systemic accumulation of its substrates in plasma and tissues, as well as alterations in...

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Source

Identifiers

PMID: 19523753
DOI: 10.1016/j.clineuro.2009.05.005

Genes

TYMP

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

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A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.PMID 19523753Read ↗

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Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.Semantic proximity Read ↗

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Semantic proximity Read ↗

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

Characterization of a Novel Pathogenic Mutation Causing Mitochondrial Neurogastrointestinal EncephalopathySemantic proximity Read ↗

A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms.Semantic proximity Read ↗

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Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read ↗

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

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