Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic autosomal recessive disease, caused by mutations in the nuclear gene TYMP which encodes the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of the deoxyribonucleo...

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Detalles Bibliográficos
Autores principales: Pacitti, Dario, Levene, Michelle, Garone, Caterina, Nirmalananthan, Niranjanan, Bax, Bridget E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309918/
https://www.ncbi.nlm.nih.gov/pubmed/30627136
http://dx.doi.org/10.3389/fgene.2018.00669

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