Taanman, JW; Daras, M; Albrecht, J; Davie, CA; Mallam, EA; Muddle, JR; ... Ginsberg, L; + view all Taanman, JW; Daras, M; Albrecht, J; Davie, CA; Mallam, EA; Muddle, JR; Weatherall, M; Warner, TT; Schapira, AHV; Ginsberg, L; - view fewer (2009) Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). NEUROMUSCULAR DISORD , 19 (2) 151 - 154. 10.1016/j.nmd.2008.11.002.
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Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder caused by loss-of-function mutations in the thymidine phosphorylase gene (TYMP). We report here a patient compound heterozygous for two TYMP mutations: a novel g.4009G>A transition affecting the consensus splice donor site of intron 9, and a previously reported g.675G>C splice site mutation. The novel mutation causes exon 9 skipping but leaves the reading frame intact: however, TYMP protein was not detected by immunoblot analysis, suggesting that neither mutant allele is expressed as protein. The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit 1 of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture. (C) 2008 Elsevier B.V. All rights reserved.
|Title:||Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)|
|Keywords:||Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), Thymidine phosphorylase, TYMP, Mitochondrial DNA, PHOSPHORYLASE GENE-MUTATIONS, DNA DEPLETION, DELETIONS|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Clinical Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience
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