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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2004-12-20
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0022-510X
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pubmed:author |
pubmed-author:AndreuAntonio LuisAL,
pubmed-author:CerveraCarlosC,
pubmed-author:GamezJosepJ,
pubmed-author:HiranoMichioM,
pubmed-author:LaraMaria CarmenMC,
pubmed-author:LeistAndres TAT,
pubmed-author:MartíRamonR,
pubmed-author:MearinFerminF,
pubmed-author:OliveMontseM,
pubmed-author:Oliveras-LeyCarlosC,
pubmed-author:PerelloAntoniaA,
pubmed-author:PeronaMonicaM,
pubmed-author:RaguerNuriaN
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
228
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
35-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15607208-5'-Nucleotidase,
pubmed-meshheading:15607208-Adult,
pubmed-meshheading:15607208-DNA Mutational Analysis,
pubmed-meshheading:15607208-Exons,
pubmed-meshheading:15607208-Genotype,
pubmed-meshheading:15607208-Humans,
pubmed-meshheading:15607208-Male,
pubmed-meshheading:15607208-Mitochondrial Encephalomyopathies,
pubmed-meshheading:15607208-Mutation,
pubmed-meshheading:15607208-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:15607208-Retrospective Studies,
pubmed-meshheading:15607208-Spain
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pubmed:year |
2005
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pubmed:articleTitle |
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
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pubmed:affiliation |
Department of Neurology, Hospital Universitari Vall d' Hebron, Barcelona, Spain.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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