Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

Abstract 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 a...

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Bibliographic Details
Main Authors: Parham Habibzadeh, Mohammad Silawi, Hassan Dastsooz, Shima Bahramjahan, Shahrokh Ezzatzadegan Jahromi, Vahid Reza Ostovan, Majid Yavarian, Mohammad Mofatteh, Mohammad Ali Faghihi
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Gastroenterology
Subjects:
Mitochondrial diseases
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
TYMP
Codon, nonsense
Online Access:http://link.springer.com/article/10.1186/s12876-020-01280-5

Internet

http://link.springer.com/article/10.1186/s12876-020-01280-5

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