ArticleBMJ neurology open2022
Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy.
Article in BMJ neurology open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.
- The Role of Primary Mitochondrial Disorders in Hearing Impairment: An Overview.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Thymidine phosphorylase in nucleotide metabolism: physiological functions and its implications in tumorigenesis and anti-cancer therapy.Frontiers in immunology · 2025Review
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Background: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a rare multisystem disorder that mainly affects the digestive and nervous systems. Key features of the disease include cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy and leucoencephalopathy. Symptoms most often begin by age 20 and overlap several other Metabolic and endocrine disorders making the diagnosis challenging. It has been determined that MNGIE is caused by mutations in the gene-encoding thymidine phosphorylase (TP; previously known as endothelial cell growth factor 1). Case: We herein present the clinical, neuroimaging and molecular findings in a patient with MNGIE caused by a novel homozygous variant of TYMP gene c.1048C>T, which is predicted to result in a premature protein termination (p.Gln350*). TYMP is a gene on chromosome 22q13.33 that encodes TP. Conclusion: This case highlights the importance of good understanding and early recognition of a rare condition like MNGIE, so that the suffering from unnecessary interventional procedures can be avoided and better multidisciplinary care can be implemented for the symptomatic management of the patient.
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