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Article

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

Journal of the neurological sciences - 15 Jan 2005

Gamez Josep, Lara Maria Carmen, Mearin Fermin, Oliveras-Ley Carlos, Raguer Nuria, Olive Montse, Leist Andres T, Perello Antonia, Perona Monica, Cervera Carlos, Andreu Antonio Luis, Martí Ramon, Hirano Michio

Abstract excerpt

A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase...

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Identifiers

PMID: 15607208
DOI: 10.1016/j.jns.2004.09.034

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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.

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