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Article

Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.

American journal of medical genetics. Part A - 1 Dec 2023

Wang Heng, Ruan Gechong, Yang Shan, Li Hui, Sun Zixi, Tian Bowen, Yan Pengguang, Li Yue, Yang Hong, Zhong Yong, Qian Jiaming

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. Here we report a 33-year-old male who presented with a 16-year history of diarrhea with black stool and progressive weight loss. He complained of progressive bilateral blurred vision, upper eyelids heaviness, ocular motility...

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PMID: 37530213
DOI: 10.1002/ajmg.a.63361

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