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Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabs...

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Detalles Bibliográficos
Autores principales:	Habibzadeh, Parham, Silawi, Mohammad, Dastsooz, Hassan, Bahramjahan, Shima, Ezzatzadegan Jahromi, Shahrokh, Ostovan, Vahid Reza, Yavarian, Majid, Mofatteh, Mohammad, Faghihi, Mohammad Ali
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206720/ https://www.ncbi.nlm.nih.gov/pubmed/32384880 http://dx.doi.org/10.1186/s12876-020-01280-5

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