Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy

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...

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Detalles Bibliográficos
Autores principales: Shah, Syed Asfand Yar, Shakeel, Hassan Abdullah, Hassan, Wajih Ul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403154/
https://www.ncbi.nlm.nih.gov/pubmed/36072350
http://dx.doi.org/10.1136/bmjno-2022-000287

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403154/
https://www.ncbi.nlm.nih.gov/pubmed/36072350
http://dx.doi.org/10.1136/bmjno-2022-000287

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