| Literature DB >> 15607208 |
Josep Gamez1, Maria Carmen Lara, Fermin Mearin, Carlos Oliveras-Ley, Nuria Raguer, Montse Olive, Andres T Leist, Antonia Perello, Monica Perona, Carlos Cervera, Antonio Luis Andreu, Ramon Martí, Michio Hirano.
Abstract
A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase (TP) gene. The mutation is predicted to produce a 6 amino acid insertion in the alpha-beta-domain of the protein. This 18-bp insertion in the thymidine phosphorylase gene is the first duplication mutation identified in MNGIE.Entities:
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Year: 2004 PMID： 15607208 DOI： 10.1016/j.jns.2004.09.034
Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181