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Article

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.

Neuromuscular disorders : NMD - 1 Dec 2009

Massa Roberto, Tessa Alessandra, Margollicci Maria, Micheli Vanna, Romigi Andrea, Tozzi Giulia, Terracciano Chiara, Piemonte Fiorella, Bernardi Giorgio, Santorelli Filippo M

Abstract excerpt

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, ptosis, ophthalmoplegia, and leukoencephalopathy with early onset and severe prognosis. Mutations in the TYMP/ECGF1 gene cause a loss of thymidine phosphorylase catalytic activity, disrupting the homeostasis of intramitochondrial...

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Source

Identifiers

PMID: 19853446
DOI: 10.1016/j.nmd.2009.08.013

Genes

TYMP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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