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Clinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One
Xiao-Yan Zhang1, Qing-Li Zhu1, Ge-Chong Ruan2
1Department of Ultrasound,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Abstract:
Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.
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