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Article

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

Journal of neurology - 1 May 2009

Horváth Rita, Bender Andreas, Abicht Angela, Holinski-Feder Elke, Czermin Birgit, Trips Tobias, Schneiderat Peter, Lochmüller Hanns, Klopstock Thomas

Abstract excerpt

While mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is typically associated with mutations in the nuclear gene encoding for thymidine phosphorylase (ECGF1, TYMP), a similar clinical phenotype was described in patients carrying mutations in the nuclear-encoded polymerase gamma (POL...

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Source

Identifiers

PMID: 19252805
DOI: 10.1007/s00415-009-5023-8

Genes

TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19252805-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.PMID 19252805Read ↗

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

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Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.Semantic proximity Read ↗

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

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.Semantic proximity Read ↗

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

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