A Rare Case of Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease due to mutations in the thymidine phosphorylase gene, leading to mitochondrial alterations and dysfunctions in oxidative phosphorylation. MNGIE is a multisystem disorder with gastrointestinal symptoms...

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Detalles Bibliográficos
Autores principales: Manski, Scott Adam, Adkins, Christopher, Smith, Colin, Blair, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287275/
https://www.ncbi.nlm.nih.gov/pubmed/35919666
http://dx.doi.org/10.14309/crj.0000000000000777

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287275/
https://www.ncbi.nlm.nih.gov/pubmed/35919666
http://dx.doi.org/10.14309/crj.0000000000000777

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