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Article

Phenotypic variability in a Spanish family with MNGIE.

Neurology - 13 Aug 2002

Gamez J, Ferreiro C, Accarino M L, Guarner L, Tadesse S, Martí R A, Andreu A L, Raguer N, Cervera C, Hirano M

Abstract excerpt

Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness. In both affected individuals, biochemical defects of thymidine phosphorylase and a pathogenic G-to-A transition mutation at nucleotide 435 in the thymidine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12177387
DOI: 10.1212/wnl.59.3.455

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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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