Article
Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
Nucleosides, nucleotides & nucleic acids - 1 Oct 2004
Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y
Abstract excerpt
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). The disease is characterized clinically by impaired eye movements, gastrointestinal dysmotility, cachexia, peripheral neuropathy, myopathy, and leukoencephalopathy. Molecular genetic studies of MNGIE patients' tissues have revealed multiple...
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