Article
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology - 1 Jun 2000
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn C D, Connolly A M, Verloes A, Guimarães J, Maillard I, Hamano H, Donati M A, Semrad C E, Russell J A, Andreu A L, Hadjigeorgiou G M, Vu T H, Tadesse S, Nygaard T G, Nonaka I, Hirano I, Bonilla E, Rowland L P, DiMauro S, Hirano M
Abstract excerpt
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; leukoencephalopathy; and mitochondrial abnormalities. The disease is caused by mutations in the thymidine phosphorylase (TP) gene. TP protein catalyzes phosphorolysis of thymidine to thymine...
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