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Article

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

Journal of neurology - 1 Feb 2007

Schüpbach W M M, Vadday K Madhavi, Schaller A, Brekenfeld C, Kappeler L, Benoist J F, Xuan-Huong C Nguyen-Thi, Burgunder J M, Seibold F, Gallati S, Mattle H P

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase (TP) gene causes mitochondrial genomic dysfunction. Patients suffer from gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoparesis, myopathy and polyneuropathy. Magnetic resonance imaging (MRI) shows leukoencephalopathy. We describe...

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Identifiers

PMID: 17294068
DOI: 10.1007/s00415-006-0255-3

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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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