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Article

A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.

Acta neurologica Belgica - 1 Mar 2017

Wang Hui-Fang, Wang Juan, Wang Yan-Ling, Fan Jian-Jian, Mo Gui-Lin, Gong Feng-Yin, Chai Zhi-Ming, Zhang Jin, Meng Hua-Xing, Li Chang-Xin, Guo Jun-Hong, Pu Chuan-Qiang

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with mitochondrial alterations. MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencephalopathy. The condition is caused by mutation of the TYMP gene. We studied the clinical and biochemical characteristics of a family with...

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Identifiers

PMID: 27709505
DOI: 10.1007/s13760-016-0701-7

Genes

TYMP

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