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Article

Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy.

Journal of neurogenetics - 1 Jun 2013

Mihaylova Violeta, Guergueltcheva Velina, Cherninkova Sylvia, Penev Luchezar, Georgieva Galina, Stoyanova Katya, Todorova Albenaa, Tournev Ivaylo

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystemic disorder caused by TYMP gene mutations. Here, we report on the first MNGIE patient diagnosed in Bulgaria who carries a novel homozygous TYMP mutation (p.Leu347Pro). The patient presented with gastrointestinal complaints, cachexia, hearing loss, ptosis, ophthalmoparesis, polyneuropathy, cognitive impairment,...

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Source

Identifiers

PMID: 23590577
DOI: 10.3109/01677063.2013.778256

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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