Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

Abstract Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis...

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Bibliographic Details
Main Authors: Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut, Cenk Eraslan, Hüseyin Onay, Bridget Elizabeth Bax, Mahmut Çoker
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:JIMD Reports
Subjects:
clinical overview
mitochondrial neurogastrointestinal encephalomyopathy
thymidine phosphorylase
Online Access:https://doi.org/10.1002/jmd2.12315

Internet

https://doi.org/10.1002/jmd2.12315

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