Article
A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms.
Neurology India - 1 Jan 2000
Chen Xiaoyan, Xiong Xiaoyi, Liu Shu, Duan Chunmei, Xu Rui, Yang Qingwu
Abstract excerpt
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with the mutation of the TYMP gene. MNGIE causes gastrointestinal and neurological symptoms, and the gastrointestinal symptoms are usually notable, which may lead to misdiagnosis. However, we herein report a 29-year-old female who presented with prominent neurological symptoms, while her gastrointestinal...
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