Phenotypic variability in a Spanish family with MNGIE
- 13 August 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (3) , 455-457
- https://doi.org/10.1212/wnl.59.3.455
Abstract
Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness. In both affected individuals, biochemical defects of thymidine phosphorylase and a pathogenic G-to-A transition mutation at nucleotide 435 in the thymidine phosphorylase gene were identified. The first thymidine phosphorylase mutation identified in Spain showed phenotypic variability at onset.Keywords
This publication has 10 references indexed in Scilit:
- Altered Thymidine Metabolism Due to Defects of Thymidine PhosphorylaseJournal of Biological Chemistry, 2002
- The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNANature Genetics, 2001
- Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathyNature Genetics, 2001
- Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutationsAnnals of Neurology, 2000
- Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial DisorderScience, 1999
- Epitope Mapping by Label-Free Biomolecular Interaction AnalysisMethods, 1996
- [31] PHD: Predicting one-dimensional protein structure by profile-based neural networksPublished by Elsevier ,1996
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Neurology, 1994
- Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells.Journal of Biological Chemistry, 1982
- Unusual compartmentation of precursors for nuclear and mitochondrial DNA in mouse L cells.Journal of Biological Chemistry, 1982