Mitochondrial Neurogastrointestinal Encephalomyopathy and Its Pathophysiology
Author:
Affiliation:
1. Department of Internal Medicine Toho University Ohashi Medical Center, Division of Neurology
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/45/7/45_7_415/_pdf
Reference7 articles.
1. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
2. A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
3. Thymidine Phosphorylase Gene Mutation is not a Primary Cause of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
4. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
5. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation
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2. Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder;Psychiatry and Clinical Neurosciences;2017-02-08
3. Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE);Internal Medicine;2006
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