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Article

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Brain : a journal of neurology - 1 Nov 2011

Garone Caterina, Tadesse Saba, Hirano Michio

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility; cachexia; peripheral neuropathy; and leucoencephalopathy. The disease is caused by mutations in the TYMP gene encoding thymidine phosphorylasethymine phosphorylase....

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Source

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Identifiers

PMID: 21933806
DOI: 10.1093/brain/awr245
PMCID: PMC3212717

Genes

TYMP

Variants

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.

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