2023
DOI: 10.1111/nmo.14643
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Distinctive gastrointestinal motor dysfunction in patients with MNGIE

Abstract: BackgroundMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy. Even though digestive manifestations are progressive and invariably lead to death, the features of gastrointestinal motor dysfunction have not been systematically evaluated. The objective of this study wa… Show more

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Cited by 7 publications
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