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Article

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

Gene - 18 Jul 2005

Hirano Michio, Lagier-Tourenne Clotilde, Valentino Maria L, Martí Ramon, Nishigaki Yutaka

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy. Muscle biopsies of MNGIE patients have r...

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Identifiers

PMID: 15975738
DOI: 10.1016/j.gene.2005.04.041

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15975738-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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